Principles of Genetics-Inheritance

Mendels laws
Genetics crossings
Dominance relationship
Gene linkage and polyploidy
Basic patterns of human inheritance
Pedigree analysis

Gregor Mendel
German-Polish
Worked with bees and peas
Chose peas because
: Clear characters
: Short generation time
: Easy to keep
True breeding : Self pollination over many
generations give same variety as
parent
Hydridization : Mating of 2 true breeding parents

Mendels Experiment 1
1) Hybridization of 2 true breed (Purple + White)
2) F1 : All purple
3) F2 : 3 purple : 1 white
-) A gene can exist in more than one form.
-) Organisms inherit two alleles for each trait.
-) When gametes are produced (by meiosis), allele
pairs separate leaving each cell with a single allele
for each trait.
-) When the two alleles of a pair are different, one is
dominant and the other is recessive.

Mendels Laws 1
Segregation : 2 alleles for a heritable
character
segregate during
gamete
formation and end
up in
different gametes

Mendels Law 2
Dominance :
1 trait is controlled by 2 hereditary
factors,
which exist in 2 forms, 1
dominant and
another recessive

Mendels Experiment 2

Mendels Law 3
Independent assortment :
Each pair of alleles segregates
independently of each other pair
of alleles
during gamete formation (if genes
located
on different chromosomes)

Test Crossing
Cross of 1 test organism with 1
dominant trait with a homozygote
recessive for trait A down multiple
generations
If recessive trait seen in ANY
individual, then heterozygous,
otherwise homozygous

Dominance
Simple traits controlled by 1 gene
Gene exist in 2 allelic types : Dominant
and
recessive
Dominant allele covers the effect of
recessive allele
Heterozygote Dominant trait
Homozygote Dominant / recessive trait

Law of Probability, Mendelian

Inheritance, Punnett square
Punnett square : Diagram which predict all the probable
outcomes in cross breeding
Law of probability : Chance of an event occuring
Multiplication rule :
Probability of 2 things happening in 1 organism which
is chromosomally separate = multiplication of
probability of each occurance
Addition rule
Chance of any 1 mutually exclusive trait occurring is
calculated by addition

Gene Linkage
When genes are located close
together on chromosome,
assortment during gamete formation
not independent
Eg : Cystic fibrosis and color vision
gene on
chromosome 7

Polyploidy
Addition of number of chromosome sets in an
organism
- Eg : Triploidy, tetraploidy
Humans : Miscarriage
Plants : Many Autopolyploids : Same species
- Allopolyploids : Different
>> Lomatia tasmanica : Triploid, vegetative
reproduction
>> Triticale : Wheat + rye Tetraploid

Degree of Dominance
Complete : 1 dominant over another
Incomplete : 2 allele affect
phenotype in same
way
Codominance : Affect phenotype in
different
ways

Complete

Tongue curling
Free ear lobe
Widows peak
Brown pigment : Iris, hair..
Hitchhikers thumb
.....

Incomplete Dominance / Polygenic

Inheritance
Skin color
- Governed by many genes with dominant
and recessive alleles, combination of it
determines skin color
- Quantitative, each gene contributes
differently
- Protein : Melanin
- Genes control melanin and cell activity
- Multiple genes

Codominance / Multiple
alleles
Blood group and rhesus :
- A, B, O and AB phenotype, + rhesus / -ve (D)
- Determined by 2 alleles, A/a and B/b, rhesus
D/d (most common)
- Program addition of specific carbohydrates
onto membrane H antigen
- If both dominant A and B are present, both
expressed in different ways, not mixed
effect

Pleiotropy
Multiple effect / gene
Example phenylketonuria gene:
> Phenylalanine hydroxylase:
Phenylalaninie Tyrosine
> Mental retardation, abnormal
growth,
multiple organ damage

Epistasis
Gene effect affected by other gene
Eg : Dog 2 genes
-- Bb (determine black/brown hair)
-- Ee (determine deposition of
pigment)
* Supposed 9:3:3:1 rule broken

Pedigree Analysis
Measure of pattern of inheritance of
a specific trait, in a family line
Uses diagram with :
Generation row (Horizontal)
Blood relations vertical

Haemophilia

X linked recessive
Cause bleeding issues
A : Factor VIII
B: Factor IX
Symptoms : Intracranial
haemorrhage,
bleeding into knees
(knee pain)

Genetic Disorders
Variable onset, some cause death
Cystic Fibrosis :
> Thick mucus, blocks lungs + pancreas
secretion
> Life expectancy : 40
> Caused by recessive mutation
> Prevented by carrier testing via genetic
screening
> Carried by recessive allele

 Phenylketonuria
> Recessive, unable to digest phenylalainine,
accumulates in body
> Phenylalanine : For brain development,
thus sick -> Impeded neural development
> Gene : Unknown
Breast cancer
> Gene present but in phenotype later
> BRCA1 and 2 mutations, cause ineffective
gene transcription and translation
> Family studies to determine chance

Huntingtons Disease
Late onset
Huntington gene produce Htt protein
Contains trinucleotide repeat sequence.,
randomly may increase or decrease
Susceptible individuals : Increase, cause
mHtt production Disease
- Dominant disease!!
- Cause nervous system damage and
twitching movement