Mendelian & non-

Mendelian Genetics
A class lecture for undergraduate student
By:Purnomo Soeharso
Department of Medical Biology
Faculty of Medicine UI
Genetics : Knowledge/science about heredity.

Deal with:
 How biological information (genes) and/or traits are
transferred (transmitted) from one generation to the
next.
- How the information is expressed by the organism
carrying the related (relevance) gene .

Benefit : - ilucidate pattern of inheritance.

- allow genetic manipulation (selective mating
or direct alteration of genetic substance) 
create
new organism / species.
 Banding Technique:
G banding
T banding
R banding

According to Denver and Patau classification, human

chromosomes are classified into 7 groups based on their
shape and morphology.
Chromosome Structure

Chromosome
morphology:

1. Metacentric
2. Sub metacentric
3. Acrocentric
4. Telocentric
Mendel’s experiment :

Worked on pea plants (Pisum sativum) crosses, in consideration

that :
- their characters were readily observable and can be
differentiated easily :
red X white flowers
tall X short trees
smooth X wrinkled seeds
- consist of complete flowers – contain either ♂ or ♀ sex cells
/structures in 1 flower  enable to conduct self fertilization
as well as cross fertilization.
- exist in a short life cycle  generation shift runs quickly &
detectable easily.
- the plants are diploid  segregate in simple manner
A cross of a highly inbred strain of peas  produce progeny of
100% identical to the parents

Mating of inbred animals/plants in several generations 

inbreeding animals/plants of pure line  carry similar heredity
factor (genotype) and express the same characteristics in all
generations.

AA X AA aa X aa
 
AA AA AA aa aa aa
A cross between two highly inbred strains of peas

P: tall tree (♂) X short tree (♀)

DD dd

F1 : Dd (tall tree)

F2 : self fertilization Dd X Dd

♀ D d
♂
D DD Dd
d Dd dd
F2 genotypes DD : Dd : dd = 1 : 2 : 1
F2 phenotype tall (D-) : short(dd) = 3 : 1

F1 are produced by P (♂ & ♀) segregation in the production

of
D & d gametes  the combination of the two gametes
create
plant with Dd genotype.

F2 are produced by F1 (♂) segregation in the production of

D & d gametes, the same way for (♀) segregation in the
production of D & d gametes  the combination of these
gametes is creating
DD: Dd: dd = 1 : 2 : 1
DD & Dd express the same phenotype  the proportion of
phenotype (D-) : dd = 3 : 1
The inheritance of a character (phenotype) is determined by parental
genotypes, each of which inherit heriditary factors (genes).

Terminology

- the alternative form of gene D is its allele d

- D allele is dominant, while d allele is recessive  the

expression of D mask the expression of d provided both of
them present in one individual.

- Individual with identical allelic pair (DD or dd) is having

homozygote genotype, individual with different allelic pair
(Dd) is said to have heterozygote genotype.

- The gene composition of one individual is the genotype of

this individual.
1st Mendelian principle (law) :

Genetic materials (gene) undergo segregation during gametogenesis

and they are gathering (reunification) during fertilization (zygote
formation).
A cross involving 2 characters together at once is called
dihybrid cross.

A cross between 2 strains of peas

yellow smooth seeds (GW) X green wrinkle seeds (gw)

G - dominant gene expressing yellow colour

g - recessive gene expressing green colour

W - diminant gene expressing seeds with smooth

surface
w - recessive gene expressing seeds with wrinkle
surface
P: Yellow smooth (♂) X green wrinkle (♀)
GGWW ggww
gametes GW gw

F1 : GgWw (yellow smooth)

self fertilization GgWw X GgWw

 F2 : GgWw (♂) X GgWw (♀)
♀ GW Gw gW gw
♂

GW GGWW GGWw GgWW GgWw

Yellow smooth Yellow smooth Yellow smooth Yellow smooth

Gw GGWw GGww GgWw Ggww

Yellow smooth Yellow wrinkle Yellow smooth Yellow wrinkle

gW GgWW GgWw ggWW ggWw

Yellow smooth Yellow smooth Green smooth Green smooth

gw GgWw Ggww ggWw ggww

Yellow smooth Yellow wrinkle Green smooth Green wrinkle
F2 genotype : (1 + 2 + 1) (1 + 2 + 1)
:1+2+1+2+4+2+1+2+1

F2 phenotype : (3 + 1) (3 + 1)
9+3+3+1

Exist as a result of random G, g, W and w gene

segregation, leading to the formation of GW, Gw, gW
and gw gametes either in ♂ or ♀  random
combination to make up zygote.
2nd Mendelian principle (law) :

Each pair of different characters in hybrid union is independent of the

other characters as that will be gamete formation with random
combination of gene
involved.

 Mendelian law of random assortment of the genes.

Fork line diagram of dihybrid cross

GgWw X GgWw

(Gg X Gg) (Ww X Ww)

 
3 W- 9 G- W- (yellow smooth)

3 G- 1 ww 3 G- ww (yellow wrinkle)

3 W- 3 ggW- (green smooth)

1 gg 1 ww 1 ggww (green wrinkle)

 AaBbcc X aaBbCc

(Aa x aa) (Bb x Bb) (cc x Cc)

  
1cc 3A-B-cc

3B- 1C- 3A-B-C-

1A-
1bb 1cc 1A-bbcc
1C- 1A-bbC-

1cc 3aaB-cc

3B- 1C- 3aaB-C-

1aa
1bb 1cc 1aabbcc
In monohybrid cross (involving 1 allele), ex. Aa  2
gemetes A and a are produced by gene segregation during
gametogenesis  after self fertilization, F2 individuals with
3 genotypes (AA, Aa, aa) and 2 phenotypes (A- and aa) are
generated.

In dihybrid cross (2 alleles), ex. AaBb  4 gametes (AB, aB,

Ab, ab) are produced through gene segregation during
gameto-genesis  after self fertilization, F2 individuals
with 9 genotypes (AABB, AaBB, AABb, AaBb, AAbb, Aabb,
aaBB, aaBb, aabb) and 4 phenotypes (A-B-, A-bb, aaB-,
aabb) are generated.
 The formulation of gametes, phenotypes, genotypes and
phenotype proportions in crossing with different alleles
involvement

Crossing Gametes Phenotypes Genotypes Phenotype Proportion

Monohybrid 2 2 3 3 : 1

Dihybrid 4 4 9 9:3: 3:1

Trihybrid 8 8 27 27 : 9 : 9 : 9 : 3 : 3 : 3 : 1

n 2n 2n 3n (3 : 1)n
Back cross and Test cross

Back cross is mating between individual genotype with one of the parent
(P).
P AA X aa

F1 Aa
back cross of Aa with AA produce one phenotype (A-) or two genotypes
(AA and Aa) 1 : 1
Aa with aa produce two phenotypes (A- dan aa) or two
genotypes (Aa and aa) 1 : 1

back cross is usually used for gene selection/purification in the purpose

of gaining individuals carrying gene of interest. Application of back cross
repeatedly allow separation (isolation) of one gene from a chromosome
due to repeated crossing over during meiosis.

Farming & animal husbandary : To gain lifestock with quality of interest.

Medicine : To obtain animals of pure line for selected experimentation.
Test cross is mating between individual genotype with parent
or other individual of recessive homozygote.

AA X aa Test cross between Aa and aa

 Aa X aa
Aa 
Aa and aa
1:1
test cross analysis allow detection of individual with
unknown genotype.
Heterozygote individual produce 2 phenotypes (A-) and aa.
Homozygote individual produce 1 phenotype (A-) if it is
dominant, or aa if it is recessive.
Modification (deviation) of Mendelian ratio

In some cases crossing between individuals may result in the modification

or deviation of Mendelian ratio.

1. Semidominance (incomplete dominance)

As dominant allele mask the expression of recessive allele incompletely,
every genotype has a distinguishable phenotype. Heterozigouse genotypes
express intermediate phenotype between dominant and recessive traits.
ex. Dominant allele M of snapdragons (Merabilis jalapa) gives red flower.
Recessive allele m gives white flower.
Hetrozigous genotype Mm give rise the flower to pink as M allele is not
completely dominant to m allele.
Cross between 2 heterozygouse Mm produce F2 offsprings in the ratio
red : pink : white = 1 : 2 : 1 (not 3 : 1).
2. Codominance
Both alleles express traits independently to each other. In hetrozigous
individual each allele is fully express, no dominancy of one allele to
its partner or vice versa.
Ex. ABO blood group
IA allele expresses A antigen on the surface of erythrocytes.
IB allele expresses B antigen on the surface of erythrocytes
Individuals with AB (IA IB ) blood group express both A and B antigens
on their erythrocyte surface.

AB X AB blood group
IA IB IA IB

IA IA : IA IB : IB IB
A AB B
1 : 2 : 1
ABO blood group.

A and B group result from the peresence of different types

of antigen (protein) on the erythrocyte surface
 determined by different alleles.

blood group genotype antigen

A I A IA A
B IB IB B
AB I AI B AB
O IO I O __
A I O IA A
B IOIB B
3. Lethal genes (alleles)
Alleles implicate with survival of individuals carrying this genes 
those carrying homozigous allele die & distorting Mendelian ratio.

Ex. Creeper hen have vestigial wings and legs.

If two creeper hen are mated, there is a ratio of two creepers and
one normal hen among their offsprings (not 3 : 1).

Creeper allele (C) is dominant in its effect on wings and legs length, but
recessive on its effect on viability.
CC  lethal, die before hatching
Cc  creeper hen
cc  normal hen, survive after hatching on
Human achondroplastic dwarfism are heterozygote (Xx) with
short arms and legs.

If a couple with this condition marry (Xx X Xx), about one

child in four dies before or soon after birth from a severe skeletal
abnormality.
XX  dies from severe abnormal bone development
Xx  viable but grow up short
xx  survive without skeletal abnormality
4. Sex linked inheritance

Alleles (genes) which occupy loci within sex chromosomes, though

express traits of non sex-determinersare said to be “sex linked”.

X linked inheritance
recessive allele is transmitted from carrier mother to her son, or from
a couple of carrier wife and affected husband to some of their
daughters & all of their sons.

Ex. X linked hemophilia

XnXh X XnY XnXh X XhY
 
XhY XnXh XhXh XhY
Mendelian inheritance in human/medicine

Dominant inheritance – manifest inheritance  whenever

the gene is present, the effect is produced (manifested).

1. Anonychia — some or all of the nails of the fingers or

toes are absent or rudimentary. Affected parent
always inherits the discrepancy to some of his/her
children.

2. Huntington disease  gradual degeneration of

nervous system  develop to muscle paralysis & die
in early/young age. Sufferer has at least one of his/her
parent suffer this heritable disease.
3. Rhesus (Rh) factor

Rabbit immunized with erythrocyte of Macaca rhesus

monkey  anti Rh (Ab).

Rh(Ab) + Rh+ blood (Caucasian)  agglutination

Rh(Ab) + Rh- blood (non-Caucasian)  no agglutination

Rh+ is dominant over Rh-

Rh+ Rh+ X Rh-Rh-
↓
Rh+Rh- (haemolytic anemia / erythroblastosis

fetalis)
Rh+ child is always born by Rh+ parent, Rh- parent never
give birth Rh+ child.
Recessive inheritance  inheritance from both parents

1. Albinism — no pigment in the skin, hair & eyes 

combination of white hair, pink eyes and fair skin.
Associated with serious defect of the eyes :
nystagmus, error of refraction & photophobia.

The great majority of albinism are the offspring of

parents who are normal in appearance.
2. Cystic fibrosis  anomali/defect of exocrine gland
- produce thick mucous
- high concentration of NaCl in sweat
- affect respiratory tract / lung  prone to infection

die in young age.

Normal parents may have cystic fibrosis children.

Parents having child with cystic fibrosis, have the
probability born another cystic child of ¼.

Aa X Aa
↓
Aa Aa Aa aa
Non-Mendelian genetics

Cytoplasmic inheritance

Mitochondria is an organell with its own DNA (is not interfeared

by DNA genom). During fertilization sperm penetrate its head
into the egg & leave the tail containing mitochondria outside.

 zygote carry only mitochondria from egg (maternal)  every

individual mitochondrial DNA is inherited down the maternal
line : from mother to children, and so on.

Ex : MELAS – Myoclonic Epilepsy Lactic acidosis and

Stroke like episode.
LOHN – Lebehr’s Hereditary Optic Neuropathy
Thank You for the Attention
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