Organismal Genetics

Mendelian Genetics
Classical Genetics
Mendel and His Experiments

•Gregor Mendel – Father of Modern Genetics

– discovered the fundamental
principles of genetics by
breeding garden peas
Mendel and His Experiments

•Gregor Johann Mendel

•July 20, 1822 – January 6, 1884
•Augustinian friar
•Abbot of St. Thomas Abbey in Brno
• Presented his paper Versuche über
Pflanzenhybriden (Experiments on
Plant Hybridization) at two
meetings of the Natural History
Society of Brünn in Moravia in 1865
•Died of chronic nephritis
 Mendel and His Experiments

•Why garden peas?

•Have both stamens and carpal
 self- or cross-fertilization
•Short generation time
•Produce many offspring
•Easy to care for
•Many paired characteristics
Garden pea
(Pisum sativum)
Mendel and His Experiments
Mendel’s garden in Brno
Mendel’s experiments
Mendel and His Experiments
Parental Generation Purple x White
(pure)
Mendel and His Experiments

Pp (purple) x Pp (purple)
 Mendel and His Experiments

•A test cross, breeding a

homozygous recessive
with dominant phenotype,
but unknown genotype,
can determine the identity
of the unknown allele
•Pairs of alleles
found on different
loci (chromosomes)
assort independently
of each other.
Chromosomal Basis of Inheritance
 1st Mendelian Law: Law of Segregation

• The factors (alleles) segregate (separate) during

gamete (sperm & egg) formation.

• Each gamete contains only one factor (allele) from

each pair.

• Fertilization gives the offspring two factors for

each trait.
2nd Mendelian Law: Law of Independent Assortment

• The pair of factors for one trait segregate

independently of the factors for other traits.

• All possible combinations of factors can occur

in the gametes.
Mendelian Ratios

Cross Genotypic Ratio Phenotypic Ratio

DD x DD (1) DD (1) D_
DD x Dd (½) DD, (½) Dd (1) D_
Dd x Dd (¼) DD, (½) Dd, (¼) dd (¾) D_, (¼) dd
Dd x dd (½) Dd, (½) dd (½) D_, (½) dd
DD x dd (1) Dd (1) D_
dd x dd (1) dd (1) dd
Probability Rules

•Product Rule
•The combined probability of two INDEPENDENT
events is equal to the product of their individual
probabilities.

•Sum Rule
•The combined probability of two MUTUALLY
EXCLUSIVE events is equal to the sum of their
individual probabilities.
Mendelian Assumptions
•the trait is controlled by a single factor or gene and that there are two
alleles involved, a dominant and a recessive allele;

•the gene is found the autosome and every parent has the same
number of alleles;

•reciprocal crosses will produce the same results;

•the genes are found in different chromosomes (unlinked), i.e., their

behavior will be independent of each other;

•there is no interation between and among genes;

•dominance and penetrance of the gene is complete;

•the trait produced has no selective value, i.e., every phenotype has an
equal chance of survival and reproduction;

•the genetic material is found in the chromosome (in the nucleus).

•Some examples of simple Mendelian traits in humans

DOMINANT recessive
FREE earlobe attached earlobe
FINGER HAIR no finger hair
FRECKLES no freckles
WIDOW’S PEAK no widow’s peak
NORMAL thumb hitchhiker’s thumb

Widow’s peak Straight hairline

Finger hair
Freckles
•Some examples of simple Mendelian traits in humans

DOMINANT recessive
FREE earlobe attached earlobe
FINGER HAIR no finger hair
FRECKLES no freckles
WIDOW’S PEAK no widow’s peak
NORMAL thumb hitchhiker’s thumb

Free earlobe Attached earlobe

Normal thumb Hitchhiker’s thumb
•Some examples of simple Mendelian traits in humans

DOMINANT recessive
FREE earlobe attached earlobe
FINGER HAIR no finger hair
FRECKLES no freckles
WIDOW’S PEAK no widow’s peak
NORMAL thumb hitchhiker’s thumb

• Recent studies, however, dispute the simple

Mendelian mode of inheritance of many of these
traits.
• Achondroplasia
– have short stature, with an average adult height of 4 feet,
3.8 inches for males and 4 feet, 0.6 inches for females.
– autosomal dominant mutation in the fibroblast growth
factor receptor gene 3 (FGFR3) found on 4p16.3, which
causes an abnormality of cartilage formation.
– homozygote dominants are usually lethal.
• Xeroderma pigmentosum (XP)
– Genetic disorder of DNA repair due to UV exposure.
– Autosomal recessive trait.
– Multiple basal cell carcinomas (basaliomas) and other
skin malignancies occur at a young age.

Child with XP exposed to UV

Child with XP wearing a
protective suit
• Polydacytly
– a congenital physical anomaly in humans, dogs, cats and
having supernumerary fingers or toes.
– autosomal dominant mutation.

Postaxial Preaxial Mid-ray

• Polydacytly
– a congenital physical anomaly in humans, dogs, cats and
having supernumerary fingers or toes.
– autosomal dominant mutation.
Consider the following crosses in Drosophila. Based on the results, deduce which
alleles are dominant and the genotypes of the parents

Parents Offspring

Brown- Brown- Red- Red-

long vestigial long vestigial

1. Brown-long x 78 24 0 0
Brown-long

2. Red-long x 30 27 98 95
Red-vestigial

3. Red-vestigial x 0 0 80 87
Red-long

4. Red-long x 45 16 139 51
Red-long

5. Red-vestigial x 48 42 46 45
Brown-long
Extension of Probability and Genetic Events

•Binomial Theorem

• Involves cases where one of two alternative

outcomes is possible during each of a number
of trials.

• Can quickly calculate the probability of any

specific set of outcomes among a large
number of potential events.

(a + b)n = 1
A man and a woman, both of whom are heterozygote normal for
skin pigmentation, decide to have 6 children.

1. How many combinations are possible where two are normal

and four are with albinism?

2. What is the probability that all children will be normal?

3. What is the probability that three children will be normal and

three will have albinism?

4. What is the probability that the first child is normal, the second
is albino, the third is normal, the fourth is albino, the fifth is
normal, and the sixth is albino?
Chi Square Test

• A test for goodness of fit

• Examines how well observed data fit or differ
from predicted or expected occurrences.
(o – e) 2
X2 = 
e
• Where o = observed data
e = expected data
df = degree of freedom; n – 1
• Where n = # of observed categories
critical p = 0.05
A cross between two purple-flowered and yellow-seeded
pea plants yielded the following results:

purple flowers, yellow seeds: 587

purple flowers, green seeds: 197
white flowers, yellow seeds: 168
white flowers, green seeds: 56

1. What are the most probable genotypes of the parental

strains?

2. Prove your hypothesis by conducting a Chi square

test.
CHI SQUARE TABLE
Non-Mendelian Modes of Inheritance
•Incomplete Dominance
•Co-Dominance
•Pleiotropy
•Multiple Alleles
•Extrachromosomal Inheritance
•Lethal Genes
•Epistasis
•Polygenic Inheritance
•Sex-Related Traits
•Sex-Influenced Traits
•Sex-Limited Traits
•Sex-Linked Traits
Non-Mendelian Modes of Inheritance

•Incomplete Dominance

•The heterozygote condition is intermediate between

the two extreme phenotypes.

•The genotypic ratio is also the phenotypic ratio.

Non-Mendelian Modes of Inheritance

•Incomplete Dominance

•Flower color in snapdragons

(Antirrhinum majus).

•One allele (a1) codes for the

active enzyme that affects
the rate of synthesis of
anthocyanin pigment; the
other (a2) for the inactive
enzyme.
Non-Mendelian Modes of Inheritance

•Incomplete Dominance
•Radish (Raphanus) shape

Elongated Oval Round

Non-Mendelian Modes of Inheritance

•Incomplete Dominance
•Hair type in humans
•The amount of curl is determined by the number
of disulfide bonds between keratin molecules.

Curly Wavy Straight

Non-Mendelian Modes of Inheritance

•Co-Dominance

•The heterozygote condition manifests BOTH extreme

phenotypes.

•The genotypic ratio is also the phenotypic ratio.

Non-Mendelian Modes of Inheritance

•Co-Dominance
•Shorthorn cattle coat color
•Red x white = roan
Non-Mendelian Modes of Inheritance

•Co-Dominance
•The MN blood group system in humans
•Presence of two alleles: M & N
•Alleles determine the type of glycophorins
present on the erythrocyte membrane

Alleles present Blood Type

MM M
MN MN
NN N
Non-Mendelian Modes of Inheritance

•Co-Dominance
•The MN blood group system in humans

•Philippine data (Arcellana et al. 2011)

•MM – 37.52%
•MN – 45.84%
•NN – 16.64%

•Based on 541 individuals

Non-Mendelian Modes of Inheritance

•Pleiotropy
•One gene pair, many effects.

•Affected individuals may express different subsets of

symptoms that may superficially appear as if they are
caused by different disorders.
Non-Mendelian Modes of Inheritance

•Pleiotropy
•Phenylketonuria (PKU)
•Caused by any mutation in the gene that codes for the
phenylalanine hydroxylase enzyme that converts
phenylalanine (Phe) to tyrosine (Tyr)
•Type of mutation could lead to reduced or no Phe
conversion
•Phe accumulation can be toxic
• Mental retardation
• Reduced hair and skin pigmentation
•Manifestation could also be affected by Phe in the diet
Non-Mendelian Modes of Inheritance

•Multiple Alleles

•There are at least three types of alleles for a particular

trait, with two alleles occupying a single locus at any given
time.

•Dominance hierarchy may be exhibited.

Non-Mendelian Modes of Inheritance

•Multiple Alleles
Phenotype Genotype
•Coat color in rabbits
Agouti CC, Ccch, Cch, Cc
•C > cch > ch > c Chinchilla cchcch, cchch, cchc
Himalayan c hc h, c hc
Albino cc

Agouti Chinchilla Himalayan Albino

Non-Mendelian Modes of Inheritance

•Multiple Alleles
•Note:

# of alleles in a # of genotypes
series
2 3
3 6
4 10
5 15
n (n/2)(n+1)
Non-Mendelian Modes of Inheritance

•Multiple Alleles
•ABO blood typing in humans

Genotype Blood Type

AA, AO A
BB, BO B
AB AB
OO O
•Inheritance of Blood Type
Non-Mendelian Modes of Inheritance

•Multiple Alleles
•ABO blood typing in humans
•Note: Bombay phenotype
•First detected in a woman in Bombay
•Has an incomplete H substance
•Precursor molecule of antigens A and B (which are
made up of lipids and carbohydrates)
•One or two terminal sugars are added to the H
substance to form either A or B antigen
•People recessive for the trait (hh) will have an
incomplete H substance, and no functional antigen
will be produced
People with this trait will functionally be type O even
if they have the A or B antigen.
Non-Mendelian Modes of Inheritance

•Multiple Alleles
•Human leukocyte antigen (HLA) genes in humans
•Genes that code for the HLA proteins
•Cell surface proteins that are involved in the
acceptance or rejection of tissue and organ grafts
and transplants.
•Closely linked genes found in chromosome 6 in
humans.

Chromosome 6
Non-Mendelian Modes of Inheritance

•Multiple Alleles
•Human leukocyte antigen (HLA) genes in humans
•There are 2 classes of genes
•Class I
•HLA-A (with 23 kinds of alleles)
•HLA-B (with 47 kinds of alleles)
•HLA-C (with 8 kinds of alleles)
•Class II
•HLA-DP (with 6 kinds of alleles)
•HLA-DQ (with 3 kinds of alleles)
•HLA-DR (with 14 kinds of alleles)
•Alleles also behave in a co-dominance fashion
•Millions of phenotypic combinations are possible
•(A third class has been found)
Non-Mendelian Modes of Inheritance

•Multiple Alleles
•Human leukocyte antigen (HLA) genes in humans
•Haplotype
•allelic combination of HLA on a single chromosome