Genetics

Year 10 Science
  Genetics is the study of heredity
 Heredity is the study of biological inheritance (the
passing down of biological traits such as hair
colour, skin type etc)
Introduction
 Biological inheritance is the handing down of
genes
 Genes are the blueprints of life
 Genes determine how we look and function
DNA Deoxyribonucleic acid
DNA is a very long molecule that looks like a
spiral ladder.
This structure is called the double helix.
It is made of repeating chemical units that
contain specific “bases”.
DNA animation
The bases
There are 4 different bases in
DNA called:
 Guanine (G)
 Cytosine (C)
 Adenine (A)
 Thymine (T)
When 2 strands of DNA
combine, C & G join together
and A & T join together. This
is called “base pairing”.
DNA, genes &  DNA is a very large chemical and its chemical structure
determines how organisms look and function.
chromosomes
 Genes are sections of DNA that code for specific
characteristics such as eye colour.
 Chromosomes are large lengths of DNA wrapped
around a protein, that contain many genes. Apart from
genes, chromosomes contain large sections that do not
code for anything.
 Cells & DNA
 DNA is found in the
nucleus of cells
 Chromosomes in the
Nucleus

 Chromosomes are found in

the nucleus of cells and
there are sections of DNA
which code for traits. These
sections are genes.
Chromosomes
 Chromosomes are DNA wrapped
around proteins to form an X-
shaped structure.
 Each molecule of DNA forms one
chromosome.
 Genes are along each
chromosome. These genes hold the
instructions for making proteins.

 Chromatids are joined by the

centromere to form the X shape.
They are then known as sister
chromatids.
  Each molecule of DNA is very long and has a
sequence of A, T, G & C.
 The sequence on the other strand is called the
complementary sequence.
The DNA  Write down the complementary sequence for:
Code ATT C G G C TATAC G C

TAA G C C G ATAT G C G
The Genetic Code

 The order of bases in a single strand of DNA instruct cells

on which amino acids need to be joined together to make a
particular protein.
 The code uses 3 bases (a triplet) to code for each
individual amino acid.
Triplet Codes
Some amino acids have more than 1 triplet code.
Codon Bingo

 If time, we will play a game of codon bingo.

Genes
Each DNA strand has hundreds of
thousands of DNA bases.
The DNA strand is broken up into
sections called genes.
Humans have about 30,000 genes.
The total amount of DNA
including the genes of an organism
is called the genome.
 Proteins
Are a family of large chemicals
which are made from amino
acids joining together.
They are the building blocks of
all living creatures.
Different proteins cause
differences in appearance.
Functions of proteins:
 Proteins make up the “building
material” of the body e.g hair,
fingernails.
They are the main structural units
of a cell.
Humans must make about 1 billion
proteins a day to function normally.
Proteins have many roles, including
the molecule haemoglobin, which
transports oxygen as well as
hormones that regulate and
coordinate certain functions within
our bodies, eg: insulin, which
regulates blood sugar levels.
Where do amino acids come from?
 Amino acids come from proteins in food
which are eaten and digested.
 Digestion breaks proteins down &
separates all of the amino acids from the
food.
 Cells in the body then join specific amino
acids together to make different proteins.
 Our bodies make many different proteins
because they have specific jobs to do.
Chromosome Numbers
Terminology – HAPLOID and DIPLOID
 Sex cells/gametes (sperm and egg) contain half the amount of genetic
information as normal body cells, which means they have only one set
of chromosomes.
 These cells are referred to as HAPLOID, represented by the symbol n.
 A body cell and the zygote (a fertilised egg cell) contain two sets of
chromosomes, so are called DIPLOID (di meaning 2), represented by
the symbol 2n.
 In humans, the haploid number (n) is carried by the sperm and eggs,
so when they meet and fertilise they form a zygote which is diploid
(2n).
Passing on Genetic Information
 In order for most cells to make identical copies of themselves for
growth and repair, they must go through a process called Mitosis.
 Mitosis occurs in all body cells, as well as the zygote. It results in
genetically identical diploid cells.
 Sex cells (sperm and egg) undergo a different process called
Meiosis. It results in genetically diverse haploid cells. This is why
you are not identical to your siblings.
 Human body cells and the zygote all contain 46 chromosomes (23
pairs). This number is different for various species (eg: snails have
24 chromosomes or 12 pairs of chromosomes).
Human Karyotype

Click image for video

 Karyotype
 A ‘photograph’ of one’s chromosomes, grouped in pairs of
homologous chromosomes and arranged by size.
 Homologous chromosomes are a pair of chromosomes, one
inherited from each parent.
 They have the same genes in the same locations (not always
the same version of the gene), are of similar size, and have a
similar centromere position.
 Humans have 1 pair of sex chromosomes (XX or XY) and 22
pairs of autosomes (chromosomes that are not sex
chromosomes).`
Chromosome Abnormalities

 All abnormalities result from an error during meiosis,

called “nondisjunction”
 The problem arises when, during meiosis, there is a failure
of homologous chromosomes to separate.
 This results in either monosomy (one copy of a
chromosome that should have 2, eg: 2n-1) or trisomy
(three copies of a chromosome that should have 2, eg:
2n+1)
Analysing Karyotypes:

1. Are there 46 chromosomes?

2. Are there 2 identical chromosomes in each pair of
autosomes and 2 sex chromosomes?
3. Are there any rearrangements between
chromosomes or large, obvious deletions?
Karyotypes DO NOT show:

1. Individual DNA strands or genes or the DNA

sequence
2. The number of genes in a chromosome
3. The presence of gene mutations
6 Chromosome Disorders caused by Nondisjunction

1. Down syndrome (trisomy 21)

2. Edwards syndrome (trisomy 18)
3. Klinefelters syndrome (trisomy XXY)
4. XYY syndrome (trisomy XYY)
5. XXX syndrome (trisomy X)
6. Turners syndrome (monosomy XO)
**Nearly all other nondisjunctions lead to death of embryo or
child before adulthood.
Activity
 Go to the following website:
http://www.biology.arizona.edu/human_bio/activities/karyotyping/kary
otyping.html
 You will be able to complete the karyotype for 3 different people
and then diagnose a chromosomal disorder based on the information
given to you.
 This will help with your understanding of how simple issues can
have significant consequences.

 Section 2.2 questions p.70-71, q. 5, 6, 7, 9, 11, 14

Chromosome Abnormalities

 Down Syndrome – Extra copy of chromosome 21.

Also called “Trisomy 21”
 Have 47 chromosomes.
 One of only a few trisomy disorders in which the child has high
probability of living to adulthood
 Short stature
 Mental retardation
 Reduced life span
 Characteristic features
Down Syndrome

Lauren Potter from “Glee”

Klinefelter Syndrome
 XXY – Male
 trisomy of the sex chromosomes
 47 Chromosomes
 Sterile
 Low testosterone
 Taller than average
 Often don’t know they have it unless tested.
Klinefelter Syndrome XXY
XYY Syndrome

 Males with extra Y chromosome.

 47 chromosomes
 Taller than average
 Normal development – never know they have it
unless tested.
 May have sterility problems
XXX Syndrome

 Females with extra X chromosome

 47 chromosomes
 Taller than average
 Often develop normally – never know they have it
unless tested.
 May have sterility problems
 Turner Syndrome
 XO females.
 Missing 2nd sex chromosome.
 This is the only monosomy in which the embryo survives. If any other
chromosomes are missing then embryo/fetus does not survive.
 45 chromosomes
 Sterile
 Shorter than average
 various other characteristic symptoms
Turner Syndrome - XO
Inheritance - Terminology
 Allele – Different form of the same gene.
 Dominant – Alleles/traits that show even if only one copy
is carried (eg: brown eyes are dominant, so only need one
copy of this to have brown eyes – BB or Bb).
 Recessive – alleles/traits that show only if two copies of
the trait are carried (eg: blue eyes are recessive, so must
have 2 copies of this allele – bb).
Inheritance - Terminology

 Genotype – the genetic makeup of an organisim

 Describes the complete set of genes
 Phenotype – The appearance of an organism
 Ph – Physical – what it physically looks like
 Eg: Hair colour, eye colour etc
Inheritance - Terminology

 Heterozygous – 2 different copies of a gene

 Eg: Hh
 Remember HETERO
 Homozygous – 2 copies of the same gene
 Eg: HH or hh
 Remember HOMO
 Punnet Squares

 Used to predict the genotypes and phenotypes of offspring.

What would the offspring be where one parent is homozygous

yellow (dominant) and the other parent is homozygous green
(recessive)?

y y Y=Yellow
y= Green
Y Yy Yy
100% Yy
100% Yellow offspring
Y Yy Yy
 Another Punnet Square Example

Predict the eye colour of the offspring of parents who are both heterozygous
for brown eyes (Bb). The recessive allele is green eyes.

Offspring:

B b 50% Bb
25% BB
B BB Bb 25% bb

b Bb bb 75% Brown eyes

25% Green eyes
Types of Dominance

 Simple dominant/recessive (Mendelian), controlled by a single

gene(as we have already discussed).

 Sex-linked – controlled by genes on the X or Y chromosome.

 Co-dominance – both alleles are equally dominant.

 Sex-Linkage
 We already know that human females have two sex chromosomes (XX) and human
males also have two sex chromosomes (XY). Therefore, sex determination in
humans depends on the Y chromosome.
 The X chromosome also has many genes not related to sex determination. These are
carried on the X chromosome but do not always relate to the sex of the person.
 We use the sex chromosome in the punnett square, with the letter superscripted,
when we are predicting X-linked traits.
Sex-linkage Example
Codominance
 Where two alleles are equally dominant, they both are expressed in an
individual that is heterozygous.
Codominance Example

What genotype and phenotype will the

offspring of a white cow and a red bull have?

R R

W RW RW

W RW RW

100% Roan
100% RW
Codominance Example 2

What genotype and phenotype will the

offspring of 2 roan cattle have?
R W

R RR RW

W RW WW

50% Roan, RW
25% Red, RR
25% White, WW
 Blood Types
 Blood type is a co-dominant trait in humans.
 RBC’s (red blood cells) have antigens (proteins) on their surface which
determine if our blood type is A, B, AB or O.
 There are 3 alleles for the ABO blood type gene:
 IA – Antigen A, (type A blood), dominant
 IB – Antigen B (type B blood), dominant
 I – No antigen (type O blood), recessive.
 We can only have 2 versions, with the possible combinations being:
 Type A blood – genotypes IAIA or IAi
 Type B blood – genotypes IBIB or IBi
 Type AB blood – genotypes IAIB
 Type O blood – genotype ii
 IA and IB are both dominant over I, but are equally dominant when together.
Blood Types Continued
Pedigrees
 Pedigrees are charts that represent family trees.
 Pedigrees are used to indicate the phenotypes of
individuals in successive generations within a
family. Sometimes they include the genotypes of
individuals, at other times they are used to infer
genotypes.
 Reading a Pedigree
 I, II and III are roman numerals
indicating the generation.
 Circles are females and squares are
males.
 Non-shaded individuals are unaffected
by the trait.
 Shaded individuals have the trait.
 Horizontal lines show two individuals
who have reproduced.
 Vertical lines show the offspring of two
parents.
What is the sex of individual II, 3 and are they
 Each individual is given a number,
affected by the trait?
starting at 1 for each generation.
Modes of Inheritance
Autosomal Dominant
 If both parents are affected and an
offspring is unaffected, the
trait must be dominant (parents are
both heterozygous).
 All affected individuals must have
at least one affected parent.
 If both parents are unaffected, all
offspring must be unaffected
(homozygous recessive).
Autosomal Recessive
 If both parents
are unaffected and an
offspring is affected, the
trait must be recessive
(parents are heterozygous
carriers).
 If both parents show a trait,
all offspring must also exhibit
the trait (homozygous
recessive).
X-Linked Dominant
 If a male shows a trait, so
too must all daughters as well as
his mother.
 An unaffected mother cannot have
affected sons (or an affected
father).
 X-linked dominant traits tend to be
more common in females (this is
not sufficient evidence though).
X-Linked Recessive
 If a female shows a trait, so
too must all sons as well as her
father.
 An unaffected mother can have
affected sons if she is a carrier
(heterozygous).
 X-linked recessive traits tend to
be more common in males (this
is not sufficient evidence
though).
 Changes in DNA
 When the DNA code is replicated during cell division, there are
sometimes errors made.
 Often the cell will repair the errors, but if not, a mutation occurs.
This then becomes a permanent change in the genome.
 There are different types of mutations:
 Point mutations
 Chromosome mutations
 Spontaneous mutations
 Germline mutations
 Somatic mutations
 Consequences of Mutations
 Beneficial (positive)
 Variations that increase the chances of the organism surviving and
reproducing, so therefore passing genetic information onto the next
generation.
 Deleterious (negative)
 May cause death of the organism or issues that prevent it from passing on
genetic information to the next generation.
 Neutral (no effect)
 Do not kill the organism or increase the chances of the genetics being
passed on to the next generation, but these variations accumulate in the
gene pool and lead to genetic variation in a population.
Point Mutations
 Occur when there is a change to one of the
nitrogenous bases (A, T, C, G). This could then in-turn
change the order of the amino acids in a protein.
 There are 4 types:
 Substitution
 Insertion
 Deletion
 Inversion
Substitution  Occurs when one nucleotide is
swapped for another (for example,
ATG becomes ACG).
 Only changes the DNA code for one
amino acid, or it could code for the
same amino acid (this is called a
silent mutation).
 An example of substitution mutation
is sickle cell anaemia, which is
caused by the change of only one
amino acid in a protein.
Insertion  Occurs when an extra nucleotide
(or more than one) is inserted into
the DNA sequence (for example,
ATG becomes ATCG).
 Changes the DNA code for all
amino acids that follow and is
called a frameshift mutation.
 An example of insertion mutation
is fragile X syndrome.
Deletion  Occurs when a nucleotide is
deleted from the sequence (for
example, ATG becomes AG).
 Changes the DNA code for all
amino acids that follow and is
called a frameshift mutation.
 An example is Duchenne
muscular dystrophy.
 Inversion

 Occurs when two nucleotides reverse their order in the DNA (for
example, ATG becomes AGT).
 This will change the order of the amino acids in the protein,
which could change the structure and function of the protein.
 Chromosomal Mutations
 As chromosomes occur as homologous pairs, if one chromosome is
abnormal the other is still likely to be normal.
 There are different types of chromosomal mutations:
 Duplication - part of chromosome is copied, resulting in duplicate sections
(potentially increases gene expression).
 Inversion - a segment of a chromosome is removed and then replaced within the
chromosome in reverse order.
 Deletion - a portion of the chromosome is removed (along with any genes
contained within this segment).
 Insertion – a portion of one chromosome is removed and then replaced in a
second chromosome.
 Translocation - segments of two chromosomes are exchanged (may interrupt
gene sequences).
Chromosomal Mutations
 DNA Testing for Mutations
 DNA can give information about the risk of a person developing certain diseases.
 People may want to be tested if they have a strong family history for a certain
disease or condition.
 Genetic screening is done during pregnancy, most commonly for Down Syndrome
and neural tube defects, but at birth, all babies are screened for cystic fibrosis, as
well as other possible issues.
 Early detection allows for possible treatment of some conditions.
 Bioinformatics uses specialised computers to sort and analyse DNA using DNA
chips.
 Improvements in technology mean we can get more information about individuals
and their genetics, but it poses ethical questions such as: What happens with your
genetic information once the tests have been completed? Who has access to that
information? Could the results of these genetic tests affect things like health
insurance?
 Manipulating DNA
 Genetic Engineering – Scientists can now transfer genetic material between
species. These species are called Transgenic Organisms.
 Genetically Modified Organisms – an organism which has had its genome
altered by humans.
 Plants GM to grow with less water.
 Genes from other organisms inserted into plants to make them resistant to certain pests.
 Gene Therapy - a copy of a functional gene is introduced into an organism.
The gene is then switched on to produce the functional protein that is
missing. This aims to treat inherited disorders like cystic fibrosis by directly
targeting the genotype (unlike symptomatic treatments that target the
phenotype), but again causes some ethical debate.