Arief Budi Yulianti

Department of Medical Biology and Histology

Faculty of Medicine, Bandung Islamic
University
 Locus
– location of a
gene/marker on the
chromosome.

 Allele– one variant form

of a gene/marker
Locus1
at a
particular locus.
Possible Alleles: A1,A2

Locus2
Possible Alleles: B1,B2,B3

2
At each locus (except for sex
chromosomes) there are 2 genes.
These constitute the individual’s
genotype at the locus.

The expression of a genotype is

termed a phenotype. For example,
hair color, weight, or the presence
or absence of a disease.
4
 Female
A| 1 2 a|a
A

Male A| a 3 4 a|a

A| a 5 6 a|a

heterozygote homozygote

5
Genotype : Homozygote dominant and recessive
Phenotype : tall and short plant.
There are three principle of Mendel’s laws :
The laws of uniformity
• Segregation
• Independent assortment.
Two members of a gene pair segregate from each other into
the gametes, so half the gametes carry one member of the
pair and the other half carry the other member of the pair.

Y/y y/y Gamete

production

Gamete
all y
production ½ y/y
½y

½ Y/y
½Y
8
 Differentgene pairs assort independently
in gamete formation.

This “law” is true only in some cases.

Gene pairs on SEPARATE CHROMOSOMES

assort independently at meiosis.

9
 Ex.One character  albino  recessive
a
 Normal : AA, Aa

 Albino  aa
 Male : normal Female: albino

P (Parental) AA  cross  aa
 
gamet A gamet a

Aa
(normalcarrieralbino)
 FII: (Filial II) F1 x F1

M A a
F
A AA Aa
a Aa aa

Genotype
1 AA: homozygous dominant 25% normal phenotype
2 Aa : heterozygous 50% normal carrier albino
1 aa : homozygous recessive 25% albino
Dihibrid

Skin male normal–bald scalp X skin female

albino – normal scalp

AA BB X aa bb
 
AB ab
gamet gamet
F1 AaBb (normal bald)
gamet AB.Ab.aB.ab
FII AaBb X AaBb
F1 F1
 Married column
M AB Ab aB ab Genotype phenotype
F
AB AABB AABB AaBB AaBb 9AABB normal bald
Ab AABb Aabb AbAb Aabb 3AAbb normal normal
aB AaBB AaBb aaBB aaBb 3 aaBB albino bald
ab AaBb Aabb aaBb aabb 1 aabb albino normal
Crossing over
Occur at gametogenesis last miosis I in metafase
Chromosome duplicate.
Simple:
B B b B
b B b B b
b
v V
V v V v V
v V v

4 gamets BV:bv = formelly combination

Bv:bv = new combination
Ratio BV:Bv:bV: bv= 4:1:1:4
Fig.18.10
 Sex linkage
Genes which are loc
Blood group system Xg
XG
Xm
cb
gd
hp
Ae
Un homolog cm
Tak homolog nb
an
md

tc
xb
po
sp
Homolog Eb
rp
A pedigree is a chart of the genetic history of
family over several generations

 Scientists
or a genetic counselor would find
out about your family history and make this
chart to analyze

 Autosomal dominant, autosomal recessive, X-

linked
Pedigree
notation
Autosome dominant
Autosomal recessive
X-link recessive
 Population a collection of organisms at a
certain time and place
 Gene pool a collection of genes in the
population
 Allele frequency the proportion of all
alleles at a locus that are of a specified type.
 Polymorphism  the proportion of all
genetic loci that exist in more than one
allelic form.
 Gene and genotype frequency do not change
due to sexual reproduction alone
 Assumption:
 large population
 no selection
 no mutation
 no migration
 random mating
 Allele frequency:
 p+q=1

 Genotype frequency:
 p2 + 2 pq + q2 =1
Curly hair

Allele: C and c

Phenotype Genotype C allele c allele

Curly: 24 CC: 24 48 0
Wave: 49 Cc: 49 49 49
Straight: 27 cc: 27 0 54
Total: 100 Total: 100 97 103

Genotype frequency:
CC= 24/100=0,24
Cc= 49/100 = 0,49
cc= 27/100 = 0,27
CC + Cc + cc = 1  p2 + 2pg + q2 = 1

Allele frequency:
C = 97/200= 0,485
c= 103/200= 0,515
G + c = 1  p+q = 1