Basic Genetics, Variation and Evolution

BIO 1102
Topics &Sub-topics

1 INTRODUCTION TO HEREDITY 5 Hrs

History
Genetics terms
Meiosis, sexual life cycles and origins of variation

2 MENDELIAN INHERITANCE 6 Hrs

Mendel’s experiments and laws of segregation
Patterns of inheritance
Mendelian inheritance in Humans

3 MODIFICATION MENDELIAN RATIOS 8 Hrs

Codominance and Incomplete dominance
Multiple alleles
Epistasis
4 CHROMOSOMAL BASIS OF INHERITANCE 8 Hrs
Linkage types
Recombination, crossing over and crossover values
Determination of gene loci
Sex chromosomes, sex linkage and associated patterns of inheritance
Sex determination
5 MUTATIONS 4 Hrs
Mutagens
Point mutations
Chromosomal mutations
6 INTRODUCTION TO EVOLUTION 8hrs
Theories of the origin of life
Evidence of evolution
Ecology and evolution
7 MECHANISMS OF EVOLUTIONARY CHANGE 6 Hrs
Mutation
Recombination
Genetic drift
Migration and Immigration
Selection
Speciation
 History of Genetics

Gregor Mendel, a 19th century Austrian monk conducted hybridization experiments in garden
peas (Pisum sativum). From these experiments, he made two generalizations which later
became known as Mendel's Principles of Heredity or Mendelian inheritance.

Mendel's conclusions were largely ignored. Although they were not completely unknown to
biologists of the time, they were not seen as generally applicable, even by Mendel himself, who
thought they only applied to certain categories of species or traits.

In the 19th-century biologists discovered the blending of inherited traits in the overall
appearance of the progeny also known as multigene characters due to interactions in contrast
to organ-specific binary characters studied by Mendel.

Mendel’s work was "re-discovered" by three European scientists, Hugo de Vries, Carl Correns,
and Erich von Tschermak. The exact nature of the "re-discovery" has been somewhat
debated: De Vries published first on the subject, mentioning Mendel in a footnote, while
Correns pointed out Mendel's priority after having read De Vries's paper and realizing that he
himself did not have priority. De Vries may not have acknowledged truthfully how mu ch of his
knowledge of the laws came from his own work, or came only after reading Mendel's paper.
Later scholars have accused Von Tschermak of not truly understanding the results at all.

The "re-discovery" made Mendelism an important but controversial theory. Its most vigorous
promoter in Europe was William Bateson, who coined the terms "genetics" and "allele" to
describe many of its tenets. The model of heredity was highly contested by other biologists
because it implied that heredity was discontinuous, in opposition to the apparently continuous
variation observable for many traits. Many biologists also dismissed the theory because they
were not sure it would apply to all species. Mendel applied mathematics to his biological
experiments, a background which most of his colleagues lacked when he published his work in
1865. In 1900 European scientists discovered Mendel’s paper and confirmed his conclusions
they then begun to search for inside cells evidence to Mendel’s observations. Chromosomes
were not yet discovered. These scientists developed staining techniques and were able to view
chromosomes and details of mitosis and meiosis.

These biologists and statisticians such as R. A. Fisher were able to show that if multiple
Mendelian factors were involved in the expression of an individual trait, they could produce the
diverse results. Thomas Hunt Morgan integrated the theoretical model of Mendel with the
chromosome theory of inheritance, in which the chromosomes of cells were thought to hold the
actual hereditary material, and created what is referred to as classical genetics. This was and
cemented Mendel's place in history.
 Mendel's success can be contributed to:
1. His decision to start his crosses only with true-breeding plants
2. His background of biology, physics and mathematics.
3. He also only measured absolute (binary) characteristics, such as color, shape, and
position of the offspring, rather than quantitative characteristics.
4. He expressed his results numerically and subjected them to statistical analysis.
5. His method of data analysis and his large sample size gave credibility to his data.

Concepts Used of Classical Genetics.

Diploid: A diploid nucleus contains two sets of chromosomes.

Haploid: A haploid nucleus contains a single set of chromosomes.
Polyploidy: Polyploids contain more than two sets of chromosomes in each nucleus. For
example, bananas are triploid.
Homologous chromosomes: Homologous chromosomes are the same size, the same
shape, and have the same gene map. They are not necessarily genetically identical.
Genome; A genome is an individual organism’s total array of genetic information.
Gene pool: The gene pool is the total genetic diversity of a particular species.
Gene: A gene is a segment of DNA which controls the production of a particular
characteristic. More precisely, a gene is a recipe for the production of a specific kind of protein.
Allele: Alleles are different forms of the same gene. For any gene, an individual may
possess only two alleles, and a gamete may possess only one. However, the gene pool of a
species may contain many alleles for any gene. Alleles are assigned symbols according to
specific rules of convention. All alleles of a particular gene should be given versions of the
same symbol.
Locus (plural Loci): A gene’s locus is its position on a chromosome. All genes have
individual and unique locations characteristic of the species. Organisms of the same species
have the same assortment of genes, arranged according to the same gene map on their
chromosomes. In other words, their various genes have the same loci.
Multiple alleles: A gene has multiple alleles if there are more than two different alleles
for that gene in the gene pool. For example, there are three different alleles for the A-B-O
blood type gene in human populations.
Genotype: The genotype of an organism is the list of the symbols representing that
organism’s specific genetic constitution or a list of all the alleles the individual carries for its
genes.
Phenotype: The phenotype is the actual physical expression of an organism’s traits.
Much of the phenotype is the product of the genotype, but environmental influence can be very
important as well.
 Homozygous: A homozygous individual
has two identical alleles for the gene in question. eg, BB, bb, AA
Heterozygous: A heterozygous individual has two different alleles for the gene in question.
For example, Bb
Hemizygous: This term refers to the condition of a gene which is carried on an X or Y
chromosome in a male. Since there can be only one copy of such a gene in the cell, the terms
homozygous and heterozygous are inappropriate. Essentially, hemizygous means that a gene
is present in only one copy.

Complete dominance: If two alleles display complete , it is not possible to tell the difference
between the homozygous dominant individual and the heterozygous individual. The recessive
allele is hidden by the presence of the dominant allele.
Dominant: The dominant allele is the one which is displayed in the phenotype of the
heterozygote. In assigning allelic symbols, the convention is to assign a capital letter to the
dominant allele. Dominant traits can never skip generations in a pedigree, they always show.
Recessive: The recessive allele is the one which is hidden in the phenotype of the
heterozygote. The recessive allele is generally assigned a lower case letter symbol. Recessive
traits can skip generations in a pedigree.
Incomplete dominance: If two alleles show incomplete dominance, the phenotype of
the heterozygote is intermediate between the phenotypes of the two homozygotes. For
example, RR produces red flowers, R’R’ produces white flowers, and RR’ produces pink
flowers. Alleles showing incomplete dominance are typically assigned symbols which are
variations of capital letters.
Co-dominance: If two alleles show co-dominance, the phenotype of the heterozygote
expresses both of the alleles completely. For example, in the A-B-O blood group, the LA and
LB alleles show co-dominance. The heterozygote (Type AB) has all of the bloody type
characteristics of Type A blood as well as those of Type B blood. Again, co-dominant alleles
are generally assigned different versions of the same capital letter for symbols.
Pseudodominance: This results when a particular genotype is lethal. For example, curly
wings in Drosophila (fruit flies). The heterozygote has curly wings, the homozygous straight has
straight wings (wild type), and the homozygous curly is lethal (the eggs never hatch).
Superficially, the effect looks like complete dominance (the curly allele appears to be
dominant), but upon closer examination is not. By convention, the homozygous lethal allele is
given a capital letter symbol and the pseudo-recessive allele is given a lower case letter
symbol.
Monohybrid cross:
This is a mating between two individuals who are both heterozygous for the one gene which
you are following. Eg: Aa x Aa
Dihybrid cross: This is a mating between two individuals, both of whom are
heterozygous for the two genes you are following. Eg: AaBb x AaBb
 Test cross: This is the mating between an individual of unknown genotype and a
homozygous recessive individual (eg, B- x bb) for the purpose of exposing hidden recessive
alleles in the unknown parent.
Back cross: Literally, this is the mating between an offspring and one of its parents. In
practice, it is often a mating between an offspring and an individual of the same genotype as
one of the offspring’s parents.
Epistasis: An epistatic effect occurs when one gene interferes with the expression of a
second gene. The most common example of an epistatic gene is albino. Virtually all animal
species have been demonstrated to express an albino trait. Albinism is the complete lack of the
ability of manufacture any pigment (Usually melanin, at least in mammals). Therefore, the
albino locus is epistatic to an other genes which influence any aspect of color. Eg, in people,
the brown-eyed allele is completely dominant to the blue-eyed allele, but in an individual who
is homozygous recessive for albino (a completely different gene from the eye color gene), it
makes no difference what the genotype for eye color is—the eyes will be pink/red (due to the
reflection off the blood vessels in the retina in the back of the eye).

Linkage: Genes which are carried on the same chromosome are considered to be
linked. The two linked genes made after crossing, do not behave independently, and results do
not behave according to simple rules of statistics.
Independent Assortment: Genes which are not linked will behave independently of
each other, and will assort according to simple rules of probability.
Linkage mapping: Since the further apart two linked genes are, the more likely a
crossover event between them will be, linked genes can be ordered on chromosomes by
studying rates of recombination. Distances between linked genes are expressed in linkage map
units, which are calculated as percentages of recombination. Randomness results in 50 percent
recombination, so unlinked genes are all 50 linkage map units apart. Genes which are linked
but are far apart on the same chromosome may also map to 50 linkage map units apart.
Linkage map units are not strictly additive.

Autosomal traits are traits carried on any of the chromosomes other than the sex
chromosomes.
Sex linked traits: This is a special type of linkage. Sex linked genes are carried either
on the X or the Y chromosome in mammals or fruit flies, in birds, it would be the Z or W
chromosome).

X-linked genes. These are carried on the X chromosome. Since females have two copies of
the X chromosome and males have only one, rare recessive characteristics which are X-linked
will occur more often in males than in females. Also, since an XY zygote always inherits its X
from its female parent and its Y from the male parent, males inherit all of their X-linked traits
from their mothers.
Y-linked (holandric) genes. These are carried on the Y chromosome. Since Y
chromosomes are inherited exclusively through the male line, males inherit all Y-linked traits
from their fathers. Y-lined traits found in a father must appear in all of his sons, and all of their
sons, etc. In mammals, maleness is carried on the Y chromosome.

Sex influenced traits: Sex influenced traits are autosomal traits whose expression is
affected by gender. Usually, the alleles are influenced by the presence of certain hormones
which either increase or decrease the effects of the alleles. Eg, pattern baldness in humans is
sex influenced. The gene for this trait has two alleles, the bald allele and the non-bald allele.
The effectiveness of the bald allele is greatly increased in the presence of high levels of the
hormone testosterone. Since this hormone is found in much higher levels in males than in
females, the bald allele is dominant in males and recessive in females.

Sex limited traits. They are autosomal traits whose expression is possible only in one of
the genders. These traits generally affect the primary and secondary sexual characteristics. Eg,
cryptorchidism is a condition in males in which one or both testes fail to descend into the
scrotum late in gestation. This characteristic is genetically controlled, by an autosomal gene. A
female can be genetically cryptorchid, but she can’t possibly express the trait.

Wild type. This refers to the phenotype which is most common in nature. This generally
refers to a phenotypic which is found in almost all “wild” members of a particular species. Eg, in
gerbils, the brown color is the wild type. All other colors are rare in nature. When there is clear
wild type allele for a particular gene, that allele is often simply represented by a “+” rather than
a letter (eg, brown = +; black = b). Another common way to designate a wild type is by using
the symbol for the rare allele (usually recessive) with a “+” to represent the wild type (eg, brown
= b+; black = b).

A balanced polymorphism. This exists when more than one common phenotype exists in
a natural population of a particular species. The balance refers to the fact that the allelic
frequencies for the traits do not change from generation to generation. Eg, eye color is a
balanced polymorphism in modern human beings, the two common phenotypes being brown
and blue.
A quantitative or polygene trait is controlled by two or more different genes working
in concert. Eg, human skin color is controlled by between five and fifteen different genes, each
with at least two different alleles. The skin phenotype of an individual is the product of all of the
at least 10 alleles of these genes working together, plus the impact of environmental influence.
The result of quantitative inheritance is generally that the trait doesn’t show discretely different
phenotypes, but rather demonstrates a continuous variation in the species. Human skin color
 demonstrates this perfectly. There are no “categories” of human skin color, just a continuous
spectrum from very pale to very dark.
Many quantitative traits are threshold traits. A threshold trait has basically only two
expressions, even though it may be controlled by a number of genes working together. The
cumulative effects of all of those genes (and often a significant amount of contribution from
environmental factors) determines whether the phenotype will “cross the threshold” from one
expression to the other. A probable example of a threshold trait in human beings is
schizophrenia. It has been well established that heredity contributes significantly to the
possibility that an individual will develop schizophrenia. Each of us inherits a certain level of
“predisposition” in our genotypes. Environmental influences can also act to promote the onset
of schizophrenia. If one inherits a genotype which contains a high level of genetic
predisposition, it can take very little environmental contribution to cross the threshold and
trigger the development of schizophrenia. However, if ones genetic predisposition is low, one
may be able to accept a high level of environmental influence without developing the symptoms
of schizophrenia.
Pliotropy . It refers to genes with multiple effects. For example, the white spotting gene
in gerbils apparently also influences red blood cell count. Another simple example is that genes
which influence characteristics of the fingers will also influence characteristics of the toes.

Meiosis, Sexual life cycles and Origins of Variation

Meiosis is the division of the contents of the nucleus and it divides the chromosomes among gametes.
Variation is introduced during meiosis, as well as when the gametes combine during fertilization. The
variation that sexual reproduction creates among offspring is very important to the survival and
reproduction of those offspring. This is the ultimate source of variation in sexual organisms. In
addition, those different mutations are continually reshuffled from one generation to the next when
different parents combine their unique genomes, and the genes are mixed into different combinations
through the process of meiosis. The only source of variation in Asexual organisms is mutation.

Life Cycles of Sexually Reproducing Organisms

Fertilization and meiosis alternate in sexual life cycles. What happens between these two events
depends on the organism. The process of meiosis reduces the resulting gamete’s chromosomal
number by half. While Fertilization, joins the two haploid gametes, restores the diploid condition.

There are three main categories of life cycles in multicellular organisms:

Diploid-dominant, in which the multicellular diploid stage is the most obvious life stage as with most
animals including humans;
Haploid-dominant, in which the multicellular haploid stage is the most obvious life stage (and there is
no multicellular diploid stage), as with all fungi and some algae; and

Alternation of generations, in which the two stages, haploid and diploid, are apparent to one degree or
another depending on the group, as with plants and some algae.
Nearly all animals employ a diploid-dominant life-cycle strategy in which the only haploid cells
produced by the organism are the gametes. The gametes are produced from diploid germ cells, a
special cell line that only produces gametes. Once the haploid gametes are formed, they lose the
ability to divide again. There is no multicellular haploid life stage.

Fertilization occurs with the fusion of two gametes, usually from different individuals, restoring the
diploid state-zygote.

Read and make notes on Meiosis and mitosis in animals

Genetics is the scientific study of heredity and hereditary variation.

Genetics has revolutionized medicine and agriculture. Our ability to manipulate the genetic material,
DNA, has raised some ethical concerns/worries.

The life cycle of animals.

Through meiosis, adult males produce haploid (1n) sperm, and adult females produce haploid eggs.
Upon fertilization, a diploid (2n) zygote forms, which grows into an adult through mitosis and cell
division.
In fungi, the diploid (2n) zygospore undergoes meiosis to form haploid (1n) spores. Mitosis of the
spores occurs to form hyphae. Hyphae can undergo asexual reproduction to form more spores, or
they form plus and minus mating types that undergo nuclear fusion to form a zygospore. Most fungi
and algae employ a life-cycle strategy in which the multicellular “body” of the organism is haploid.
During sexual reproduction, specialized haploid cells from two individuals join to form a diploid zygote.
The zygote immediately undergoes meiosis to form four haploid cells called spores.
In fern plants. The diploid (2n) zygote undergoes mitosis to produce the sphorophyte, which is the
familiar - leafy plant.
Sporangia form on the underside of the leaves of the sphorophyte. Sporangia undergo meiosis to
form haploid (1n) spores. The spores germinate and undergo mitosis to form a multicellular, leafy
gametophyte. The gametophyte produces eggs and sperm. Upon fertilization, the egg and sperm form
a diploid zygote.

The third life-cycle type, employed by some algae and all plants, is called alternation of generations.
These species have both haploid and diploid multicellular organisms as part of their life cycle. The
haploid multicellular plants are called gametophytes because they produce gametes. Meiosis is not
involved in the production of gametes in this case, as the organism that produces gametes is already
haploid. Fertilization between the gametes forms a diploid zygote.

The zygote will undergo many rounds of mitosis and give rise to a diploid multicellular plant called a
sporophyte. Specialized cells of the sporophyte will undergo meiosis and produce haploid spores. The
spores will develop into the gametophytes.

Nearly all eukaryotes undergo sexual reproduction. The variation introduced into the reproductive
cells by meiosis appears to be one of the advantages of sexual reproduction that has made it so
successful. Meiosis and fertilization alternate in sexual life cycles.

The process of meiosis produces genetically unique reproductive cells called gametes, which have
half the number of chromosomes as the parent cell. Fertilization, the fusion of haploid gametes from
two individuals, restores the diploid condition. Thus, sexually reproducing organisms alternate
between haploid and diploid stages. However, the ways in which reproductive cells are produced and
the timing between meiosis and fertilization vary greatly.

There are three main categories of life cycles: diploid-dominant, demonstrated by most animals;
haploid-dominant, demonstrated by all fungi and some algae; and alternation of generations,
demonstrated by plants and some algae.

NOTE
- Offspring acquire genes from their parents by inheriting chromosomes.
- Parents endow their offspring with coded information in the form of genes.
- Your genome is made up of the genes that you inherited from your mother and your father.
- Genes produce specific traits that emerge as we develop from fertilized eggs into adults.
- Genes are segments of DNA. Genetic information is transmitted as specific sequences of the four
deoxyribonucleotides in DNA.
- Most genes program cells to synthesize specific enzymes and other proteins whose cumulative
action produces an organism’s inherited traits.
- The transmission of hereditary traits has its molecular basis in the precise replication of DNA.
- The replication of DNA produces copies of genes that can be passed from parents to offspring.
- In plants and animals, reproductive cells called gametes transmit genes from one generation to the
next.
- After fertilization (fusion of a sperm cell and an ovum), genes from both parents are present in the
nucleus of the fertilized egg, or zygote.
- Almost all the DNA in a eukaryotic cell is subdivided into chromosomes in the nucleus.
- Tiny amounts of DNA are also found in the mitochondria and chloroplasts.
- Every living species has a characteristic number of chromosomes. Humans have 46 chromosomes
in almost all of their cells.
- Each chromosome consists of a single DNA molecule associated with various proteins.
- Each chromosome has hundreds or thousands of genes, each at a specific location, or locus, along
the length of the chromosome.
- Only organisms that reproduce Asexually can produce offspring that are exact copies of themselves.
- In asexual reproduction, a single individual is the sole parent to donate genes to its offspring.
- Single-celled eukaryotes can reproduce asexually by mitotic cell division to produce two genetically
identical daughter cells.
- An individual that reproduces asexually gives rise to a clone, a group of genetically identical
individuals.
- Members of a clone may be genetically different as a result of mutation.
- In sexual reproduction, two parents produce offspring that have unique combinations of genes
inherited from the two parents.
- Unlike a clone, offspring produced by sexual reproduction vary genetically from their siblings and
their parents.

Fertilization and Meiosis alternate in sexual life cycles.

A life cycle is the generation-to-generation sequence of stages in the reproductive history of an
organism. A life cycle starts at the conception of an organism and continues until the organism
produces its own offspring.
In humans, each somatic cell (all cells other than the sperm or ovum) has 46 chromosomes. Each
chromosome can be distinguished by its size, position of the centromere, and pattern of staining with
certain dyes.
Generally, the two chromosomes in a pair have the same length, centromere position, and staining
pattern. These homologous chromosome pairs carry genes that control the same inherited characters.
However, the two distinct sex chromosomes, the X and the Y, are an exception to the general pattern
of homologous chromosomes in human somatic cells.
The pattern/combination of inheritance of the sex chromosomes determines an individual’s sex.
Human females have a homologous pair of X chromosomes (XX); males have one X and one Y
chromosome (XY).
Most of the genes carried on the X chromosome are not found on the tiny Y chromosome, which as
well has genes that are not found on the X chromosome. The other 22 pairs of chromosomes are
called autosomes.

The occurrence of homologous pairs of chromosomes is a consequence of sexual reproduction.

- We inherit one chromosome of each homologous pair from each parent.
- The 46 chromosomes in each somatic cell are two sets of 23, a maternal set (from your mother) and
a paternal set (from your father).
The number of chromosomes in a single set is represented by n. Any cell with two sets of
chromosomes is called a diploid cell and has a diploid number of chromosomes, abbreviated as 2n.
Sperm cells or ova (gametes) have only one set of chromosomes—22 autosomes and an X (in an
ovum) or 22 autosomes and an X or a Y (in a sperm cell).

Any sexually reproducing species has characteristic haploid and diploid numbers of chromosomes.
For humans, the haploid number of chromosomes is 23 (n = 23), and the diploid number is 46 (2n =
46).
- In the fruit fly, Drosophila, 2n = 8 and n = 4.
- In the domestic dog, 2n=78 and n=39.

In a cell in which DNA synthesis has occurred, all the chromosomes are duplicated. Each duplicated
chromosome consists of two identical sister chromatids.
Note the difference between homologous chromosomes, sister chromatids, nonsister chromatids, and
chromosome sets.

Three events unique to meiosis occur during meiosis I:

1. Synapsis and crossing over
- During prophase I, replicated homologs pair up and become physically connected along their lengths
by a zipper-like protein structure, the synaptonemal complex, in a process called synapsis.
- Crossing over, genetic rearrangement between nonsister chromatids, occurs during this stage.

2. Alignment of homologs on the metaphase plate

- During metaphase I of meiosis, pairs of homologous chromosomes (rather
than individual chromosomes, as in mitosis) line up on the metaphase plate.

3. Separation of homologs
- During anaphase I of meiosis, the replicated chromosomes of each
homologous pair move toward opposite poles, while the sister chromatids
of each replicated chromosome remain attached.
- In anaphase of mitosis, the sister chromatids separate.
During meiosis I, the sister chromatids are attached along their lengths by protein complexes called
cohesins.
In mitosis, enzymes remove the cohesins to allow the sister chromatids to move to opposite poles of
the cell at the end of metaphase. While in meiosis, sister chromatid cohesion is released in two steps.
- In metaphase I, homologs are held together by cohesion between sister chromatid
arms in regions where DNA has been exchanged.
In anaphase I, cohesins are cleaved along the arms, allowing homologs to separate.
-In anaphase II, cohesins are cleaved at the centromeres, allowing chromatids to separate. What
prevents cohesin cleavage at the centromere while it occurs along sister chromatid arms at the end of
metaphase I?
- A protein named “shugoshin” (Japanese for “guardian spirit”) protects cohesins from cleavage at the
centromere during meiosis I, keeping the sister chromatids joined.

Genetic variation among offspring.

Once different versions of genes arise through mutation, reshuffling of alleles during meiosis,
fertilization will produce offspring with their own unique set of traits.
The behavior of chromosomes during meiosis and fertilization is responsible for most of the variation
that arises in each generation.
Three mechanisms contribute to genetic variation arising from sexual reproduction:

i) independent assortment of chromosomes,

ii) crossing over, and
iii) random fertilization.

Independent assortment of chromosomes contributes to genetic variability due to the random

orientation of homologous pairs of chromosomes at the metaphase plate during meiosis I.
There is a fifty-fifty chance that a particular daughter cell from meiosis I will get the maternal
chromosome of a certain homologous pair and a fifty-fifty chance that it will receive the paternal
chromosome.
- Each homologous pair of chromosomes segregates independently of every other homologous pair
during metaphase I.
- Therefore, the first meiotic division results in independent assortment of maternal and paternal
chromosomes into daughter cells.
- The number of combinations possible when chromosomes assort independently into gametes is 2n,
where n is the haploid number of the organism.
Eg If n = 3, there are 23 = 8 possible combinations.
For humans with n = 23, there are 223, or more than 8 million possible combinations of
chromosomes.

Crossing over produces recombinant chromosomes, which combine genes inherited from each
parent.
-Crossing over begins very early in prophase I, as homologous chromosomes pair loosely along their
lengths.
- Each gene on one homolog is aligned precisely with the corresponding gene on the other homolog.
-In a single crossover event, specific proteins orchestrate an exchange of the corresponding
segments of two nonsister chromatids—one maternal and one paternal chromatid of a homologous
pair.
In crossing over, homologous portions of two nonsister chromatids trade places.
As a result, individual chromosomes carry genes derived from two different parents.
For humans, this occurs an average of one to three times per chromosome pair. Chiasmata hold
homologs together as the spindle forms in meiosis I.
Crossing over, by combining DNA inherited from two parents into a single chromosome, is an
important source of genetic variation. At metaphase II, nonidentical sister chromatids sort
independently from one another, further increasing the number of genetic types of daughter cells that
are formed by meiosis.

The random nature of fertilization adds to the genetic variation arising from meiosis.
Any sperm can fuse with any egg. The ovum is one of more than 8 million possible chromosome
combinations. The successful sperm is one of more than 8 million possibilities. The resulting zygote
could contain any one of more than 70 trillion possible combinations of chromosomes.
Therefore,
- Each zygote has a unique genetic identity.
-Evolutionary adaptation depends on a population’s genetic variation.
- Charles Darwin recognized the importance of genetic variation in evolution.
- A population evolves through the differential reproductive success of its variant
members.
- Those individuals best suited to the local environment leave the most offspring, transmitting their
genes in the process.
- This natural selection results in adaptation, the accumulation of favorable genetic variations in a
specific environment.
- If the environment changes or a population moves to a new environment, new genetic combinations
that work best in the new conditions will produce more offspring, and these genes will increase.
Formerly favored genes will decrease.
- Sex and mutation continually generate new genetic variability.

In History, although Darwin realized that heritable variation makes evolution possible, he did not have
a theory of inheritance. Gregor Mendel, a contemporary of Darwin’s, published a theory of inheritance
that explained genetic variation and thus supported Darwin’s theory.
Mendel’s work was largely unknown until 1900, after both Darwin and Mendel had been dead for
more than 15 years.

Other Sex Chromosomes

Sex determination results in the development of individuals with characteristics that allow them to be
identified as males, females, or in some cases, hermaphrodites eg nematode C. elegans.

Chromosomal in Insects.
Insects are the most diverse class of organisms on the planet, so it is not too surprising that they
show considerable diversity in their mechanisms of sex determination (Saccone et al., 2002).
However, like most other animals, the majority of insects have dimorphic sex chromosomes that can
be distinguished cytologically.

In butterflies and moths (order Lepidoptera): females are the heterogametic sex, while males are
homogametic. The sex chromosomes in Lepidoptera are designated as W and Z.
W chromosome is usually associated with the development of female characteristics. When the W
chromosome is absent, ZZ develops into males and ZO develop into females. Having a W
chromosome to develop as a female isn't even a necessity for some species. A moth known
as Talaeporia tubulosa uses the ambient temperature to control sex determination in the absence of
W chromosome.
When temperatures are warm, the Z chromosome is found on the inner spindle and more female eggs
are produced, whereas in colder conditions, the Z chromosome moves to the outer pole, resulting in
greater production of males (Traut et al., 2007). This system corresponds to the adaptive advantage
of favoring the production of female offspring when conditions are good (warm) and resources for their
subsequent reproduction are more likely to be available.
Some grasshoppers also use a single-chromosome (XX/XO) sex determination system; here, males
have only one sex chromosome, so they are considered to be XO. Thus, males are the heterogametic
sex, because they produce two different kinds of gametes.

The system of chromosomal sex determination is even further reduced in certain genera of
mosquitoes, in which the two sexes are chromosomally indistinguishable. Sex in this homogametic
group is thought to be determined by a dominant male-determining factor.

Sex Determination in Drosophila

The sex chromosomes of the fruit fly Drosophila melanogaster have played a particularly important
role in our understanding of heredity. Therefore, it may come as a surprise that fruit flies use a
relatively rare mechanism to determine sex. In fact, in Drosophila, sex is primarily determined by
the X:A ratio, or the ratio of the number of X chromosomes to the number of sets of autosomes (Cline
& Meyer, 1996). The balance between female-determining factors encoded on the X chromosome
and male-determining factors encoded on the autosomes determines which sex-specific pattern
of transcription will be initiated.

Sex Determination in Mammals

In placental mammals, the presence of a Y chromosome determines sex. Normally, cells from
females contain two X chromosomes, and cells from males contain an X and a Y chromosome.
Occasionally, individuals are born with sex chromosome aneuploidies, and the sex of these
individuals is always determined by the absence or presence of a Y chromosome. Thus, individuals
with 47,XXY and 47,XYY karyotypes are males, while individuals with 45,X and 47,XXX karyotypes
are females. Humans are able to tolerate supernumerary numbers of sex chromosomes because of X
inactivation and the fact that the human Y chromosome is quite gene-poor.

Sex Determination in Birds: Z and W Chromosomes

In birds, sex is determined by chromosomes known as the Z and W, and females are the
heterogametic sex. Early on, it was apparent that there were notable differences in the mechanisms
used for sex determination in birds and mammals. Working with chickens, scientists were unable to
find a counterpart of the SRY gene required for mammalian testis determination, so they searched for
homologues of other genes that were required for testis formation in mammals.

MENDELIAN INHERITANCE

Mendel considered characteristics of pea plants seed (endosperm) color, seed shape, seed coat
color, pod color, pod shape, flower position, and stem length. Seeds are either yellow or green and
are depicted as having either a smooth, round shape, or an irregular, wrinkled shape. The coats that
encapsulate the seeds look like thin shells folded over the seed. They are either gray or white.
Peapods containing multiple seeds look like elongated ovals and are either yellow or green. They can
have an inflated or constricted shape: inflated pods look plump and full. Constricted pods look
shriveled. The position of flowers on the pea plant can be either axial or terminal. Axial flowers occur
along the length of the stem, while terminal flowers occur at the tips of stems. The height of stems can
be either short or tall.
Mendel not only crossed pure-breeding parents, but he also crossed hybrid generations and crossed
the hybrid progeny back to both parental lines. These crosses (which, in modern terminology, are
referred to as F1, F1 reciprocal, F2, B1, and B2 are the classic crosses to generate genetically hybrid
generations.

Understanding Dominant Traits

Before Mendel's experiments, most people believed that traits in offspring resulted from a blending of
the traits of each parent. However, when Mendel cross-pollinated one variety of purebred plant with
another, these crosses would yield offspring that looked like either one of the parent plants, not a
blend of the two.

For example, when Mendel cross-fertilized plants with wrinkled seeds to those with smooth seeds, he
did not get progeny with semi-wrinkly seeds. Instead, the progeny from this cross had only smooth
seeds. In general, if the progeny of crosses between purebred plants looked like only one of the
parents with regard to a specific trait, Mendel called the expressed parental trait the dominant trait.
From this simple observation, Mendel proposed his first principle, the principle of uniformity; this
principle states that all the progeny of a cross like this (where the parents differ by only one trait) will
appear identical. Exceptions to the principle of uniformity include the phenomena of penetrance,
expressivity, and sex-linkage, which were discovered after Mendel's time.

Understanding Recessive Traits

When conducting his experiments, Mendel designated the two pure-breeding parental generations
involved in a particular cross as P1 and P2, and he then denoted the progeny resulting from the
crossing as the filial, or F1, generation. Although the plants of the F1 generation looked like one
parent of the P generation, they were actually hybrids of two different parent plants. Upon observing
the uniformity of the F1 generation, Mendel wondered whether the F1 generation could still possess
the nondominant traits of the other parent in some hidden way.

To understand whether traits were hidden in the F1 generation, Mendel returned to the method of self-
fertilization. Here, he created an F2 generation by letting an F1 pea plant self-fertilize (F1 x F1). This
way, he knew he was crossing two plants of the exact same genotype. This technique, which involves
looking at a single trait, is today called a monohybrid cross. The resulting F2 generation had seeds
that were either round or wrinkled.

The self-fertilization resulted in more round than wrinkled seeds among the F2 progeny. These results
illustrate several important aspects of scientific data:

Multiple trials are necessary to see patterns in experimental data.

There is a lot of variation in the measurements of one experiment.
A large sample size, or "N," is required to make any quantitative comparisons or conclusions.

Experiment shows that the single characteristic of seed shape was expressed in two different forms
in the F2 generation: either round or wrinkled. Also, when Mendel averaged the relative proportion of
round and wrinkled seeds across all F2 progeny sets, he found that round was consistently three
times more frequent than wrinkled. This 3:1 proportion resulting from F1 x F1 crosses suggested there
was a hidden recessive form of the trait. Mendel recognized that this recessive trait was carried down
to the F2 generation from the earlier Parent (P) generation.

Mendel and Alleles

One of the most impressive things about Mendel's thinking lies in the notation that he used to
represent his data. Mendel's notation of a capital and a lowercase letter (Aa) for the hybrid genotype
which is now represented as the two alleles of one gene: A and a.
When one parent carried all the dominant traits (AA), the F1 hybrids were "indistinguishable" from that
parent. However, even though these F1 plants had the same phenotype as the dominant P1 parents,
they possessed a hybrid genotype (Aa) that carried the potential to look like the recessive P1 parent
(aa). After observing this potential to express a trait without showing the phenotype, Mendel put forth
his second principle of inheritance: the principle of segregation. According to this principle, the
"particles" (or alleles as we now know them) that determine traits are separated into gametes during
meiosis, and meiosis produces equal numbers of egg or sperm cells that contain each allele.

Dihybrid Crosses
A diagram outlines the steps in a genetic cross between two pea plants. The top panel of the diagram
represents the parental generation and shows an illustration of the seeds from two plant strains: one
strain has a round, yellow seed. The second strain has a wrinkled, green seed. An X between the two
strains indicates a genetic cross has occurred. The middle panel in the diagram represents the F1
generation and shows a single round, yellow seed. The lower panel shows the F2 generation resulting
from self-fertilization of the F1 generation in a Punnett square. A number representing the proportion
of each phenotype in the F2 generation is shown below the Punnett square. The genotype is shown
above each illustration.

Mendel had thus determined what happens when two plants that are hybrid for one trait are crossed
with each other, but he also wanted to determine what happens when two plants that are each hybrid
for two traits are crossed. Mendel therefore decided to examine the inheritance of two characteristics
at once. Based on the concept of segregation, he predicted that traits must sort into gametes
separately. By extrapolating from his earlier data, Mendel also predicted that the inheritance of one
characteristic did not affect the inheritance of a different characteristic.

Mendel tested this idea of trait independence with more complex crosses. He generated plants that
were purebred for two characteristics, such as seed color (yellow and green) and seed shape (round
and wrinkled). These plants would serve as the P1 generation for the experiment. In this case, Mendel
crossed the plants with wrinkled and yellow seeds (rrYY) with plants with round, green seeds (RRyy).
From his earlier monohybrid crosses, Mendel knew which traits were dominant: round and yellow. So,
in the F1 generation, he expected all round, yellow seeds from crossing these purebred varieties, and
that is exactly what he observed. Mendel knew that each of the F1 progeny were dihybrids; in other
words, they contained both alleles for each characteristic (RrYy). He then crossed individual F1 plants
(with genotypes RrYy) with one another. This is called a dihybrid cross. Mendel's results from this
cross were as follows:
315 plants with round, yellow seeds
108 plants with round, green seeds
101 plants with wrinkled, yellow seeds
32 plants with wrinkled, green seeds
Thus, the various phenotypes were present in a 9:3:3:1 ratio.

Mendel went through his data and examined each characteristic separately. He compared the total
numbers of round versus wrinkled and yellow versus green peas, as shown in Table.

Round Wrinkled
Number of plants 315 + 108 = 423 101 + 32 = 133
Proportion of total 3.2 1
Table 2: Data Regarding Pea Color

Yellow Green
Number of plants 315 + 101 = 416 108 + 32 = 140
Proportion of total 2.97 1

The proportion of each trait was still approximately 3:1 for both seed shape and seed color. In other
words, the resulting seed shape and seed color looked as if they had come from two parallel
monohybrid crosses; even though two characteristics were involved in one cross, these traits behaved
as though they had segregated independently. From these data, Mendel developed the third principle
of inheritance: the principle of independent assortment. According to this principle, alleles at one locus
segregate into gametes independently of alleles at other loci. Such gametes are formed in equal
frequencies.
Why did Mendel Select Pea Plants for his Experiments?

1. The pea plant can be easily grown and maintained.

2. They are naturally self-pollinating but can also be cross-pollinated.
3. It is an annual plant, therefore, many generations can be studied within a short period of
time.
4. It has several contrasting characters.

Mendel conducted 2 main experiments to determine the laws of inheritance. These experiments were:

1. Monohybrid Cross Experiment ratio of 3:1

2. Dihybrid Cross Experiment in a ratio of 9:3:3:1.

While experimenting, Mendel found that certain factors were always being transferred down to the
offspring in a stable way. Those factors are now called genes i.e. genes can be called the units of
inheritance.

Conclusions from Mendel’s Experiments

 The genetic makeup of the plant is known as the genotype. On the contrary, the physical
appearance of the plant is known as phenotype

 The genes are transferred from parents to the offsprings in pairs known as allele.

 During gametogenesis when the chromosomes are halved, there is a 50% chance of one of
the two alleles to fuse with the other parent.

 When the alleles are the same, they are known as homozygous alleles and when the alleles
are different they are known as heterozygous alleles.

Mendel’s laws

The two experiments lead to the formulation of Mendel’s laws known as laws of inheritance which are:

1. Law of Segregation
2. Law of Dominance
3. Law of Independent Assortment

Law of Segregation

The law of segregation states that during the production of gametes, two copies of each hereditary
factor segregate so that offspring acquire one factor from each parent. In other words, allele
(alternative form of the gene) pairs segregate during the formation of gamete and re-unite randomly
during fertilization. This is also known as Mendel’s third law of inheritance.
Law of Independent Assortment

Mendel’s second law of inheritance, the law of independent assortment states that a pair of trait
segregates independently of another pair during gamete formation. As the individual heredity factors
assort independently, different traits get equal opportunity to occur together.

Law of Dominance

This is also called Mendel’s first law of inheritance. According to the law of dominance, hybrid
offsprings will only inherit the dominant trait in the phenotype. The alleles that are suppressed are
called as the recessive traits while the alleles that determine the trait are known as the dormant traits.

We deduce the following explanation from Mendel’s experiments:

1.The existence of genes. There are hereditary determinants of a particulate nature. We now call
these determinants genes.

2. Genes are in pairs. Alternative phenotypes of a character are determined by different forms of a
single type of gene. The different forms of one type of gene are called alleles. In adult pea plants,
each type of gene is present twice in each cell, constituting a gene pair. In different plants, the gene
pair can be of the same alleles or of different alleles of that gene. Mendel’s reasoning here was
obvious: the F1 plants, for example, must have had one allele that was responsible for the dominant
phenotype and another allele that was responsible for the recessive phenotype, which showed up
only in later generations.

3. The principle of segregation. The members of the gene pairs segregate (separate) equally into the
gametes, or eggs and sperm.

4. Gametic content. Each gamete carries only one member of each gene pair always.
5. Random fertilization. The union of one gamete from each parent to form the first cell (zygote) of a
new progeny individual is random—that is, gametes combine without regard to which member of a
gene pair is carried.

The basic rules of inheritance were first demonstrated by Mendel

at the time of Mendel’s work, most thought that parental traits were fluids that “blend” in offspring
Mendel recognized that this model did not explain what he observed
Mendel chose a model system and carefully established testing conditions

1. he used pea plants that he could outcross or allow to self-fertilize

2. he chose traits that had two clear possible outcomes (yellow or green seeds, etc.)
3. he established true-breeding or “pure” lines to use for genetic crosses

Terminology for genetic crosses

1. P generation (or P1) = parental generation

2. F1 generation = first generation offspring (from filial)
3. F2 generation = second generation offspring
4. phenotype – appearance or characteristic of an organism
5. genotype – genetic makeup of an organism, determines phenotype
6. gene – unit of heredity; controls a trait that determines a phenotype
7. locus – the location of a particular gene on a chromosome
8. alleles – alternative versions of a gene
9. dominant – allele that dominates over others in determining phenotype
10. recessive – allele whose phenotypic expression is “hidden” when a dominant allele is present
11. hybrid – offspring from a cross between two “pure” lines of different, competing phenotypes
rules and terminology for examination of genetic inheritance Mendel’s law of segregation.

1. When Mendel crossed pure lines of different, competing phenotypes, he found that the F1
generation was uniform and matched one of the parents’ phenotypes
example: P1 yellow seed X green seed 

all F1 yellow seed

- When F1 plants were crossed or selfed, the F2 plants had both P1 phenotypes in a ratio of
roughly 3:1 using offspring from above

F1 X F1 F2

3yellow seed: 1 green seed

 3. Thus, contrary to the popular belief of the time, recessive traits are not lost in a mixing of
parental phenotypes – they are merely hidden in some “carrier” individuals
4. Mendel explained these ratios with what we now call his law of segregation; stated in modern
terms: individuals normally carry two alleles for each gene, these alleles must segregate in
production of sex cells
5. later investigations of cell division revealed the mechanism for segregation: the pairing and
subsequent separation of homologous chromosomes during meiosis

genotype vs. phenotype

1. phenotype is the actual appearance or characteristic, and is determined by genotype;

knowing the phenotype will not

always directly reveal the genotype (recessive traits can be masked)

2. genotype is the listing of the actual alleles present; if you know the genotype, you should be
able to predict the phenotype genotypes are either homozygous or heterozygous

i) homozygous–the homologous chromosomes have the same allele at the locus in question

ii) heterozygous – the homologous chromosomes have different alleles at the locus; if there is
a dominant allele the trait of the dominant allele will be expressed

1. The likelihood of a sex cell carrying a particular allele is determined by probability, its
expected frequency of occurrence (expressed in fractions, decimal fractions, percentages, or
ratios)
2. the combination of sex cells to form a zygote is generally ruled by probability as well
3. thus, the rules of probability govern genetics
4. product rule – when independent but not mutually exclusive events are combined, you
multiply their individual probabilities to get the overall probability of the result (genetic crosses,
X, are multiplications of probabilities)
5. sum rule– if there is more than one way to obtain a result (mutually exclusive events), you
add their individual probabilities to get the overall probability of the result the sum of all
possibilities is one (no more, no less)

Punnett square – way of diagramming genetic crosses that uses the laws of probability more
terminology

1. test cross – mating an individual that has the dominant phenotype for a trait with an individual
with the recessive phenotype; this often will reveal the genotype of the dominant parent, or at
least give some idea of the probably genotype
 2. monohybrid cross – cross between individuals that are both heterozygous for the gene that
you are following; note that these give a 3:1 phenotype ratio and a 1:2:1 genotype ratio
practice applying the law of segregation: following one gene in a cross

1. A pea plant with yellow seeds is crossed with a pea plant with green seeds (P1 generation).
All 131 offspring (F1 generation) have yellow seeds. What are the likely genotypes of the P1
plants?
2. Two of the F1 plants from above are crossed. What are the expected ratios of phenotypes
and genotypes in the F2 generation?

Law of independent assortment

1. dihybrid cross – cross between individuals that are both heterozygous for two different genes that
you are following 2. when Mendel performed dihybrid crosses he found phenotype ratios of 9:3:3:1,
which is explained by the product rule 3. this led to Mendel’s law of independent assortment:
segregation of any one pair of alleles is independent of the segregation of other pairs of alleles

Mendelian inheritance patterns

Within a population, there may be a number of alleles for a given gene. Individuals that have two
copies of the same allele are referred to as homozygous for that allele; individuals that have copies of
different alleles are known as heterozygous for that allele. The inheritance patterns observed will
depend on whether the allele is found on an autosomal chromosome or a sex chromosome, and on
whether the allele is dominant or recessive.

Autosomal dominant

If the phenotype associated with a given version of a gene is observed when an individual has only
one copy, the allele is said to be autosomal dominant. The phenotype will be observed whether the
individual has one copy of the allele (is heterozygous) or has two copies of the allele (is homozygous).

Autosomal recessive
If the phenotype associated with a given version of a gene is observed only when an individual has
two copies, the allele is said to be autosomal recessive. The phenotype will be observed only when
the individual is homozygous for the allele concerned. An individual with only one copy of the allele
will not show the phenotype, but will be able to pass the allele on to subsequent generations. As a
result, an individual heterozygous for an autosomal recessive allele is known as a carrier.

Sex-linked or X-linked inheritance

In many organisms, the determination of sex involves a pair of chromosomes that differ in length and
genetic content - for example, the XY system used in human beings and other mammals.

The X chromosome carries hundreds of genes, and many of these are not connected with the
determination of sex. The smaller Y chromosome contains a number of genes responsible for the
initiation and maintenance of maleness, but it lacks copies of most of the genes that are found on the
X chromosome. As a result, the genes located on the X chromosome display a characteristic pattern
of inheritance referred to as sex-linkage or X-linkage.

Females (XX) have two copies of each gene on the X chromosome, so they can be heterozygous or
homozygous for a given allele. However, males (XY) will express all the

alleles present on the single X chromosome that they receive from their mother, and concepts such as
'dominant' or 'recessive' are irrelevant.

A number of medical conditions in humans are associated with genes on the X chromosome,
including haemophilia, muscular dystrophy and some forms of colour blindness.
Non-Mendelian inheritance patterns Complex and multifactorial inheritance

Some traits or characteristics display continuous variation, a range of phenotypes that cannot be
easily divided into clear categories. In many of these cases, the final phenotype is the result of an
interaction between genetic factors and environmental influences.

An example is human height and weight. A number of genetic factors within the individual may
predispose them to fall within a certain height or weight range, but the observed height or weight will
depend on interactions between genes and environmental factors (for example, nutrition). Traits in
which a range of phenotypes can be produced by gene interactions and gene-environment
interactions are known as complex or multifactorial.

Mitochondrial inheritance

Animal and plant cells contain mitochondria that have their evolutionary origins in protobacteria that
entered into a symbiotic relationship with the cells billions of years ago. The chloroplasts in plant cells
are also the descendants of symbiotic protobacteria. As a result, mitochondria and chloroplasts
contain their own DNA.

Mitochondria are scattered throughout the cytoplasm of animal and plant cells, and their DNA is
replicated as part of the process of mitochondrial division. A newly formed embryo receives all its
mitochondria from the mother through the egg cell, so mitochondrial inheritance is through the
maternal line.
Genetic linkage – independent assortment does not always occur

1. independent segregation of chromosomes during meiosis I leads to independent assortment

2. independent assortment can lead to recombination.

- Recombination – any process that leads to combinations of genotypes not seen

in the parents
- recombinant gametes – gametes that display a recombinant genotype

- recombinant offspring – offspring whose phenotype reveals that they inherited

genes from a recombinant gamete

3. genes that are on the same chromosome may not sort independently; such genes are said to
be linked.
4. Crossing over breaks linkages between genes

- recall crossing over during prophase I between homologous chromosomes; it is

the only way to get genetic recombination between genes that are on the same
chromosome
- the further apart two genes are, the more likely they are to have crossing over
occur between them (thus leading to genetic recombination)

5. Genetic maps of chromosomes

- percentage of crossing over or recombination is calculated from 100 times the

number of recombinant offspring divided by the total number of offspring
 - map unit – by convention, one map unit = 1% recombination (the term cM or
centiMorgan is sometimes used for map units, in honor of a pioneer in gene
mapping)
- map distances between genes on the same chromosome are measured in map
units
- linkage group = all genes on a particular chromosome; tend to be inherited
together
- placement of a gene into a position in a linkage group is genetic mapping
- map distances get less meaningful as they get large
- as genes get further apart, the odds of multiple crossing over events between
them increase
- whendistancesapproach50mapunits,thegenesappearessentiallyunlinked
- many chromosomes have an overall map length of well over 50 map units
- genetic maps are useful in locating the actual physical location of genes on the
chromosomes
-

Incomplete dominance – the heterozygote has a phenotype that is intermediate between the two
homozygous states example: red, pink, and white snapdragon flowers

Codominance – the heterozygote expresses characteristics of both alleles; very much like
incomplete dominance

1. no an intermediate form, instead each allele is distinctly expressed

2. roan cattle, expressing both red and white hairs, are a good example (the difference between
incomplete dominance and codominance is essentially a case of splitting hairs)

3. one of the best examples is the ABO human blood type.

Multiple alleles – it is very common for there to be more than two allele types for a give locus; any
time there are three or more alleles types involved, it is referred to as multiple alleles. Dominance
relationships can vary between multiple alleles example: rabbit coat color is influenced by a gene that
has four known alleles OR human ABO blood types

the main blood type is determined by a single locus with three known alleles (IA, IB, iO)

IA and IB alleles are codominant with respect to each other, the IA allele leads to the expression of
type A antigen on the surface of red blood cells, the IB allele leads to the expression of type B antigen
on the surface of red blood cells, iO is a recessive allele; the iO allele does not lead to expression of a
cell surface antigen
Resulting blood types:

- IAIA or IAiO genotype produce only the A antigen; blood type A

- IBIB or IBiO genotype produce only the B antigen; blood type B
- IAIB genotype produces both the A antigen and B antigen; blood type AB
- iOiO genotype produces no A or B antigens; blood type O

blood transfusions (or any transplants) must be of the appropriate type, because the blood of
individuals contains antibodies against the antigens not contained on its red blood cells

- thus, type O can only accept type O blood or organs

- type AB can accept any type blood or organs (A, B, AB or O); etc.
- there are other blood type factors, such as Rh factor, that must be taken into
account, blood type is used in paternity or maternity cases only as a means to
rule out possible parents

The other key component tested for human blood typing is the Rh factor, while there are actually
several Rh factors, one (antigen D) is most commonly tested and referred to as the Rh factor; most
Americans are Rh+. Expression of antigen D on red blood cell surfaces is controlled by a single
gene; the dominant phenotype leads to expression of the antigen (recessive = no expression)

Inheritance of the Rh factor is thus described by classical Mendelian inheritance; if you express the
dominant phenotype, you are Rh+; if you are Rh-, then you are homozygous recessive for the gene
controlling the factor

Someone who is Rh- should not be given Rh+ blood or organs, because they will develop antibodies
to antigen D and reject the blood or organs. The Rh factor can cause complications during pregnancy
(something not seen with the ABO bloodgroup)
o there are other blood typings and tissue matchings that are done, but the ABO/Rh blood typing is
the one most commonly used (for example, ABO/Rh is usually all that matters for blood donation or
reception.

Pleiotrophy: one gene, many phenotypes

1. one gene affects more than one characteristic

2. usually only one gene product is directly involved, and its status affects many things
3. many disease genes are pleiotrophic (examples, cystic fibrosis, sickle cell anemia)

one phenotype, many genes: gene interactions, epistasis, and polygenic inheritance

Gene interactions – two or more genes interact to produce a novel phenotype examples: rooster
combs; coat color in Labrador retrievers hallmark of gene interactions: exactly 4 phenotypes are
found, and certain crosses will produce a 9:3:3:1 phenotype ratio in offspring (thus indicating that they
are dihybrid crosses)

Epistasis – one gene influences the phenotype that a second gene usually controls, masking any
effects of alleles at the second gene; the name literally means “stopping” or “standing upon”example:
albinism is generally epistatic.
Spot epistasis by modification of dihybrid cross results, getting ratios like 9:7 or 9:3:4 instead of
9:3:3:1

Polygenic inheritance – multiple, independent genes have similar, additive effects on a

characteristic examples include height and skin color in humans. Most economically important traits
are polygenic (cow milk production, cattle weight, corn crop yield, etc.)

Polygenic traits don’t fall easily into distinct categories; instead, they usually are measured traits
(quantitative traits). When plotted out for a population, polygenic traits produce a normal distribution
curve if mating is random with respect to the trait also note that genotype is not the only basis for
phenotype – environment can have a major impact on what phenotype is seen for some traits.

Karyotyping

Many genetic problems occur on the large-scale, chromosomal level, studies of karyotypes are often
done to test for such problems. A karyotype display reveals the composition of chromosomes for an
individual. A cell sample is taken (white blood cells, amniocentesis, chorionic villus sampling, etc.)
cells are grown in culture, and eventually treated to make chromosomes easy to photograph. The
chromosome images are then analyzed and used to create the karyotype display. Chromosomes are
identified by size, position of the centromeres, and staining patterns.

Human genome project

Sequencing the human genome provides a means to greatly accelerate studies of human genetics.
The underlying genetic causes for gene-based traits can be studied more easily (including traits that
involve multiple genes)

- sequence variations can be readily analyzed

- more sophisticated genetic testing can be performed, leading to the potential for
genetically tailored medical treatment

A “complete” draft of the human genome sequence (~3 billion basepairs) was made public in April
2003 [coinciding with the 50th anniversary of the Watson and Crick paper announcing the structure of
DNA] – there are ~25,000 genes in the genome, based on current interpretations of the sequence

Autosomal recessive genetic disorders

Most genetic disorders are inherited as autosomal recessive traits, the recessive allele is usually a
nonfunctional (or poorly functional) copy of a gene whose product is needed in metabolism.

Most genetic research use model organisms (mouse, fruit fly, etc.) uses such traits to determine gene
identities and functions

Gene therapy is considered to be a promising possibility for treatment of many of these disorders.

There is idea of putting a functional copy of the gene into critical body cells

- the problem is how to get the gene delivered to the cells where it is needed –
sometimes a virus is used to infect cells, with the virus actually carrying and
expressing the desired gene.

In some cases, particularly if blood is involved, it appears that blood stem cells may be able to be
removed from the patient, transformed (have new genetic material inserted), and then returned to the
patient’s body. The most promising transformation mechanism uses embryonic stem cells and
cloning.

This take cells from a discarded embryo (relatively common from in vitro fertilization) and remove the
nucleus, replace the nucleus with one from a putative gene therapy patient, and grow lots of cells in
culture, then they perform a technique to the gene you want into the cells, then select for the cells that
do what you want grow those cells in culture, treat them with hormones that cause them to
differentiate into the cell type that you want, and put those cells into the patient.

Examples in humans

1. phenylketonuria (PKU), most common in those of western European descent; occurs

in about 1 in 12,000 human births in the U.S. Phenylalanine (an amino acid) if not
metabolized properly, leading to a build-up of a toxic compounds that can lead to
severe mental retardation. Sometimes treated with a diet that dramatically reduces
phenylalanine consumption; potential gene therapy target.
2. sickle cell anemia, most common in those of African descent; about 1 in 500 of
African-Americans have it caused by a mutation in hemoglobin that makes it tend to
crystallize when oxygen is not bound to it. Makes red blood cells take on a sickle
shape, which can slow or even block blood flow through veins and capillaries. This
can damage tissues due to lack of oxygen and nutrients, and is very painful. It also
shortens lifespan of red blood cells, leading to anemia (low red blood cell count)

Treatments have increased life expectancy, including stimulating fetal hemoglobin production and
bone marrow transplants;
The heterozygous condition actually leads to increased resistance to malaria, and thus is favored
when malaria is present. About 1 in 12 African-Americans are heterozygous and thus “carriers” for
sickle cell anemia.

Assignment One- Aug 2024

1. Discuss different applications of Genetics especially in Nature.