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Define genetics :
The study of hereditary ( inheritance ) and variation in
living organisms .

WHAT IS A GENOME ?

A COMPLETE set of of particular organism

genes a .

HISTORY OF HERE DITORY & GENETICS

Gregor Mendel = Father of genetics

studied inheritance pea plants by choreChristies plant
* He in
looking at 7 contrasting in the .
WHY DID MENDEL EXPERIMENT WITH PEA PLANTS ?
The structure of the flower was simple and contained male + Female parts .

choreChristies that were

Clear
,
Observable
contrasting easy to record .

QUICK reproductive cycle .

How DO you know that Mendel 's Experiment was scientific

?
① He
carefully selected pea plants that were true
breeding to start with .

2 He studied ONLY 1 Characteristic at a time ,

so that results could be recorded independently .

3 Chose contrasting characteristics that were observable

4 Chose plants that grew quickly so results were seen in 1

year .

Tt151sthecydeofMzggg
HOW

Plant mate
A Female and male

.
1-LRMtNOLOGYMT-OOOTrueB.ve
"

/ Pure breeding
eating

Parents that produce to themselves for the

identical offspring chorectenstics
being studied .

Hybrid 1
crossbreeding
up offspring that results from cross between 2
genetically different parents (species )

Eg : Donkey + Horse = Mule

Self Pollination

Transfer of pollen from another stigma of the same flower

cross Pollination

Transfer of pollen from another of one flower to stigma of the same species of flower on a different plant .

Phenotype
The observable characteristic (
physical appearance ) of an organism .

Genotype

of
genetic make-up an
organism

Represented by 2 letters ; each letter represents 1 allele in the gene pair

-
Homozygous
2 Identical alleles for a characteristic
Having

TT tt
Eg : or
Heterozygous
Having 2 different alleles for a characteristic

Eg : Tt

LOCUS

Position of / alleles on a chromosome

genes

Mono
hybrid inheritance

Study of the inheritance of 1 pair contrasting

 PUNNETT SQUARE CHEAT SHEET

Below is a sampling of Punnett Square problems that you will be expected to solve. In
order to do this, you will also have to understand the meaning of the terms below.

Genotype: The letters that make up the individual. E.g. TT or Tt

Phenotype: The physical characteristics of the particular trait. E.g. Tall or short
Dominant trait: Signified by capital letter-E.g. T. If the traits you are using are dominant or recessive, this
trait will "overpower" the recessive trait and will be expressed. E.g. Tt
Recessive trait: Signified by small case letter-e.g. t. An organism with a recessive allele for a particular
form of a trait will have that form only when the dominant allele for the trait is not present
Homozygous: Has same letters. E.g. TT or tt (same alleles for trait)
Heterozygous: Has different letters. E.g. Tt (different alleles for trait)
Purebred trait: Also known as true breeding. Individuals genotype is homozygous and will only make one
type of gamete. E.g TT will always produces T, and T. tt will always produce t, and t.
Gamete: sex cells. Represented by letter N (meaning they are haploid-contain half the chromosomes
P generation: The parental generation (Usually the first one in a genetic cross)
F1 generation: The first generation of offspring from P generation (means first filial: Latin for "son")
F2 generation: The second generation of offspring from P generation (means first filial: Latin for "son")
Monohybrid Cross: Also known as a Single-Factor Cross. Only one trait is used in the genetic cross.
E.g. T=Tall, t=short. Example: Tt x Tt
Dihybrid Cross: Also known as a Two-factor Cross. Two trait are used in the genetic cross. E.g. T=Tall,
t=short & B=Black fur, b=white fur. Example TtBb x TTBB
Incomplete Dominance: One allele is not completely dominant over the other. There is a blending with
the heterozygous offspring. E.g. RR=Red, Rr=Pink, and rr=white
Co-dominance: Both alleles contribute to the phenotype. Offspring will have combination of two alleles.
E.g. RR=Red hair, Rr=Roan (mix of red and white hairs-almost looks pink), and rr=white
Sex-linked trait: Genes located on the sex-chromosomes called sex-linked genes. Usually found on the
X chromosome. X-linked alleles are always expressed in males because males have only one X
chromosome.
Multiple Alleles: There are more than two-choices for the allele. Example is human blood group genes.
There are three possible alleles for this gene. IA, IB, and i. IA and IB are co-dominant. There are four
possible phenotypes: A, B, AB, and O.
Genotypic ratios: The ratio of different genotype in the offspring from a genetic cross. E.g 1:2:1
Phenotypic ratios: The ratio of different phenotypes in the offspring from a genetic cross. E.g 3:1
MENDEL'S CONCLUSIONS
her

A characteristic determined by 2 factors called

1 in an
organism is
genes

comes from the mother and I from the father

One
gene gene comes

This forms the chromosome pairs

a
gene pair on
hornogoloos

* A Particular 2 different forms that affect the same cha rect eristic different
gene may occur in in
ways

MÑMÑMI----
Wtlttrtlltcttvnttormsottttsartctnccoiltttg
Alleles

000
One allele of the mask another allele v0 This
gene pair can is a DOMINANT ALLELE

The allele that IS masked and is NOT

visibly expressed in the
organism is no The RECESSIVE ALLELE
 MENDEL'S LAW OF DOMINANCE
If 2 Alleles are Different ,
ONLY ONE allele will be expressed

MENDEL'S LAW OF SEGREGATION

Lou During Meiosis , homogolars pairs separate from eachother , therefore each
gamete recieues only one allele

from the pair

gene

RESULTS ARE SHOWN BY USINGA PUNNET SQUARE

 POLY GENES SIR

What is the case for simple traits ?

In one cell there are 2 alleles (1 Pair ) for each

gene pair

yo 1 Paternal allele and 1 Maternal allele

what are Poly genes ?

Certain continues characteristics in people

EgMj Height , skin color and eye color are controlled by more than 1
gene pair at different loci

you More than 1 pair of alleles

* This is Always the case for the more complex traits

Égmf The
genes that control skin color are fond in loci .
 ⑤ E- ☒ -
ADDIE ☒ 8£ £-55

Recessive Genes ✗ Chromosomes are called sex-Linked

on
genes
-

They carry genetic Disorders

Exampiesm3_
-
Colour Blindness

-
Haemophilia

Muscular
Dystrophy
-

HAEMOPHILIA
BLOOD -

CLOTTING DISORDER

% Blood DOES NOT Clot because a mutation occurred in the

making of the protein that 35 responsible for Blood -

Clotting

* NORMALLY : dominant alleles express the

phenotype ,
BUT , In certain sex -
celled disorders Eg:MgÉ haemophilia ,
the recessive

allele expresses the disorder ( ie : small letter of Alphabet)

_nm,-
ÑHA--5Hn-MOPH1L1ACnUSEDBYmtmmh
The Recessive the CHROMOSOME
gene on ✗ -

HOMOZYGOUS DOMINANT

NORMAL no 2 CAPITAL LETTERS

(✗
"
✗
H
)

HETROZYGOUS

carriers , they DO NOT SHOW ANY SYMPTOMS , BUT CAN PASS TO CHILDREN (✗
"
✗
h
)

HOMOZYGOUS RECESSIVE
DISORDER (✗ hxh )
ASEXLWKEDDisorozrmh-TIG.IN
OTYPES FOR HAEMOPHILIA

✗ HY MALE Without Haemophilia

✗ hy MALE WITH Haemophilia

"
✗
"
X FEMALE WITHOUT Haemophilia
h h
✗ ✗ FEMALE WITH Haemophilia
 MUTATIONS In

DEFINEMU-A-tONI.ly
Unexpected changes in structure of DNA .

3-YPE5mhwÉ
1 no lethal

2 no Neutral

3 no Beneficial

Therefore : Phenotypes will Be altered

genotypes and

Mutations can also lead to VARIATION

Expla1nMutaUon5ln5omaLKCell5mmMg
-
They are
Dangerous

Eg : Cancer , A Person could die BUT the mutation won't necessarily be passed on .

ÉxplalnMuLationslnsexcellsmmh
passed the
Mutations that occcr in sex cells can be on to next generation .

Disorders caused by Point Mutations

1 Sickle cell Anemia

you that codes for protein ( haemoglobin ) is mutated

gene
I Amino acid in the
Haemoglobin protein IS altered

* NORMAL HAEMOGLOBIN D ABNORMAL HAEMOGLOBIN

REDBIOODC-llts-slckleshapedhh-ptne.se
cells carry Less
oxygen = Person anaemia
'WsonwlLhaHetrozygouscondl4onmM_
Lp Has ENOUGH haemoglobin and therefore DOES NOT suffer from sickle cell

WHY IS IT ADVANTAGEOUS TO BE HETROZYGOUS FOR THIS CONDITION ?

4h If living in Materia area

These are resistant to Malena

Materia parasite CAN NOT survive in sickle cells %
people .

2 ALBINISM

Melanin pigment is a Protein

* in Albino -5 ,
the recessive
gene that codes for Melanin IS MUTATED

WHNT-YPEOTDISORD.IR/si-2hhm.#--.
Autosomal recessive disorder
4h

Body can't make

enough melanin for the eye ,
hair or skin color

WHO WILL BE CARRIERS ?

individuals
LA Heterozygous
 CHROMOSOME MUTATIONS
WHAT IS IT ?

CHANGES IN CHROMOSOME NUMBER OR STRUCTURE

1 CHANGES IN CHROMOSOME STRUCTURE

During process of CROSSING OVER ,

Mistakes can happen , pieces of chromatids get :

0 can see
☒ DELETED in
karyotype

can see
karyotype
* DUPLICATED 0 in

* INVERTED 0 can not see in

karyotype .
 HUMAN GENOME PROJECT

Define DNA sequencing

the order of complete set of nucleotides along strand

Finding a DNA

Purpose of
what is the a
Genotype ?

The Human Genome project was set up to map / work out the sequence of Bases ( nucleotides) in all the genes of Humans

le : IDENTIFY every single gene that makes up DNA

WHO WAS IT SET UP BY ?

up James Watson and other scientists

WHAT DOES IT HELP WITH ?

Lon Research Is medicine ,

Biotechnology , agriculture and environment

Helps to identify genes that caused Inherited diseases : .

Making it easier to treat .

ya DNA sequencing provides evidence of relationships .

PEDIGREE CHARTS

USED TO SHOW THE inheritance of Cltarecterlstics in families Over

many generations .

Used to determine possibilities of transferring genetic Disorders

KEY

7h Female

nor male

→ HAS DISORDER ( Female )

v0 HAS DISORDER ( MALE )

 Pedigree Analysis

A pedigree chart displays a family tree, and shows the members of the family who are affected by a genetic trait.
This chart shows four generations of a family with four individuals who are affected by a form of colorblindness.

• Circles represent females and • A male and female directly

squares represent males. connected by a horizontal line have
I
mated and have children. These
• Each individual is represented by:
three pairs have mated in this tree:
– a Roman Numeral, which stands II
for the generation in the family, I-1 & I-2, II-2 & II-3, III-2 & III-3

– a Digit, which stands for the III

individual within the generation. • Vertical lines connect parents to
their children. For instance the
(For instance, The female at the IV
females , II-1 and II-2 are
upper left is individual I-1.)
daughters of I-1 and II-2
• The “founding parents” in this • The “founding family” consists of
• A darkened circle or square family are the female I-1 and the two founding parents and
represents an individual affected the male I-2 in the first
by the trait. their children, II-1 and II-2.
generation at the top.

In this pedigree, the unaffected founding mother, I-1, and affected founding father, I-2, are parents to two affected daughters,
II-1 and II-2.
The affected founding daughter II-2 and the unaffected male II-3 who “marries into the family” have two offspring, an
unaffected daughter III-1 and affected son, III-2.
Finally, this affected male III-2 and the unaffected female III-3 who “marries in” have an unaffected son, IV-1.

Pedigrees are interesting because they can be used to do some detective work and are often used to study the
genetics of inherited diseases. For example, pedigrees can be analyzed to determine the mode of transmission for
a genetic disease:
(1) Dominance - whether the disease alleles are dominant or recessive;
(2) Linkage - whether the disease alleles are X-linked (on the X chromsome) or autosomal

-------------------------------------------------------------------------------------------------------------------------------------------------------
• Some Definitions
Autosomal chromosomes - The 22 chromosome pairs other than the XX (female) or XY (male) sex chromosomes.
Hemizygous - Males are “hemizygous” for X-linked genes – males only have one X chromosome and one allele of
any X-linked gene.
Allele - A version of a gene. Humans have 2 alleles of all their autosomal genes; females have 2 alleles of X-
linked genes; males have one allele of X-linked genes (and one allele of Y-linked genes).
-------------------------------------------------------------------------------------------------------------------------------------------------------

Pedigree analysis is an example of abductive reasoning. In pedigree analysis you need to look for any clues that will
allow you to decide if the trait is dominant or recessive and whether it is linked to an autosomal chromosome, or
to the X chroomsome.

On the following page(s) we’ll discuss the reasoning that goes into solving pedigree analysis puzzles.
General Assumptions
In the problems that follow, you’ll be reasoning about the mode of transmission of genetic traits that are
controlled by one gene, with two alleles, a dominant allele and a recessive allele.

We also make three simplifying assumptions:

1. Complete Penetrance. An individual in the pedigree will be affected (express the phenotype associated with a
trait) when the individual carries at least one dominant allele of a dominant trait, or two recessive alleles of a
recessive a trait.
2. Rare-in-Population. In each problem, the trait in question is rare in the general population. Assume for the
purposes of these problems that individuals who marry into the pedigree in the second and third
generations are not carriers. This does not apply to the founding parents – either or both of the individuals at
the top of the pedigree could be carriers.
3. Not-Y-Linked. The causative genes in these problems may be autosomal or X-Linked, but are not Y-linked.

5 Key Clues
There are five things to remember in reasoning about pedigrees.
(1) An unaffected individual cannot have any alleles of a dominant trait.
(because a single allele of a dominant trait causes an individual to be affected).
(2) Individuals marrying into the family are assumed to have no disease alleles
- they will never be affected and can never be carriers of a recessive trait.
(because the trait is rare in the population)
(3) An unaffected individual can be a carrier (have one allele) of a recessive trait.
(because two alleles of a recessive trait are required for an individual to be affected)
(4) When a trait is X-linked, a single recessive allele is sufficient for a male to be affected.
(because the male is hemizygous – he only has one allele of an X-linked trait)
(5) A father transmits his allele of X-linked genes to his daughters, but not his sons.
A mother transmits an allele of X-linked genes to both her daughters and her sons.

Key Patterns in Pedigree Analysis

Patterns that Indicate a RECESSIVE Trait

• The disease must be RECESSIVE if any affected individual has
2 unaffected parents.
Since this is a genetic disease at least one parent must have
an allele for the disease.
If neither parent is affected, the trait cannot be dominant.
(See Clue 1 above).
Patterns that Indicate a RECESSIVE Trait (cont)

• AUTOSOMAL RECESSIVE: If any affected founding daughter has 2 unaffected parents the
disease must be autosomal recessive.
An affected individual must inherit a recessive allele from both parents, so both parents must
have an allele.
If the father had a recessive X-linked allele, he would have to be affected (since he only has
one X-linked allele).

• RECESSIVE: If an affected founding son has 2 unaffected parents, we cannot determine if the
recessive disease is autosomal or x-linked.
If the trait is autosomal, both parents can be unaffected carriers of the disease.
If the trait is x-linked, the son must have inherited his allele from his mother only, and his
father can be unaffected.

• X-LINKED RECESSIVE: When an affected non-founding son has 2 unaffected parents the
disease must be X-linked recessive.
The father, who is marrying in, does not have any disease alleles, since he is marrying into the
family;
so the affected son inherits an allele only from his unaffected mother.
A male cannot be affected by a single autosomal recessive allele, but can be affected by a
single X-linked recessive allele.

Patterns that Indicate a DOMINANT Trait

• The disease must be DOMINANT if every affected child of NON-FOUNDING
parents has an affected parent.
The unaffected mother, who is marrying in, does not carry an allele for the
disease;
so the affected child inherits an allele only from the affected father.
No child could be affected by a single autosomal recessive allele, or X-linked
recessive allele, so the trait is dominant.

• When an affected son of non-founding parents has an affected father the disease must be
AUTOSOMAL DOMINANT.
A father does not transmit X-linked alleles to a son, so the disease cannot be X-linked
dominant.

• When an affected daughter of non-founding parents has an affected father, we cannot

determine whether the DOMINANT disease is autosomal or x-linked.
The affected father can transmit either an autosomal dominant allele, or an X-linked dominant
allele to his daughter.