Mendel Law

Arief Budi Yulianti

Medical Biology Departmet
Faculty of Medicine, UNISBA
MENDEL LAW
• Johann Gregor Mendel (1822 –1884)

regor Mendel put forth the basic principles of

nheritance, publishing his findings in 1866. The

ignificance of his work did not become widely

ppreciated until 1900.

Chromosome Logical Structure
Locus – location of a gene/marker on
the chromosome.

Allele – one variant form of a

gene/marker at a particular locus.

Locus1
Possible Alleles: A1,A2

Locus2
Possible Alleles: B1,B2,B3
Genotypes
Phenotypes
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.
 Two important terms...

Phenotype: The outlook of an organism

Genotype: The genetic information written in DNA

Phenotypes

Genotype
Genotype

GCCAAGAATGGCTCCCACCT
ATGTTTCCACCTTCAGGTTCC
GGCTCTCAGACATTCCCCTGGTCC
ACTGGGCTGATTCCCCCCTCC
AACCCCCAGGCCATCAAGATGTCT
CACTTTCAAGCTCGGCCCCTT
CAGAGAGGCGGCTAGACACCCAG
TCAACTCAGAGAGGCGGCTA
AGACCTCAAGTGACCATGTGGGAA
GACACCCAGAGACCTCAAGT
CGGGATGTTTCCAGTGACAGGCA
GACCATGTGGGAACGGGATG
TTTCCAGTGACAGGCAG
One Locus
Inheritance
Female
A|A 1 2 a|a

Male A|a 3 4 a|a

A| a 5 6 a|a

heterozygote homozygote
 There are three principle of Mendel’s laws :
 The laws of uniformity
• Segregation
• Independent assortment.
 Mendel’s 1 st
Law

Two
Twomembers
membersof of aagene
genepair
pairsegregate
segregatefrom
fromeach
eachother
otherinto
into
the
thegametes,
gametes, so
sohalf
half the
thegametes
gametescarry
carryone
onemember
memberof of the
the
pair
pairand
andthe
theother
otherhalf
half carry
carrythe
theother
othermember
memberofof the
thepair.
pair.

Y/y y/y Gamete

production

Gamete
all y
production y/y ½
y½

Y/y ½
Y½
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
(normal carrier albino)
 Heterozygous mating

M A a
F
A AA Aa
Phenotype:
a Aa aa Normal: Albino= 3:1

Genotype  AA: Aa: aa = 1:2:1

1 AA: homozygous dominant 25% normal phenotype
2 Aa : heterozygous 50% normal carrier albino
1 aa : homozygous recessive 25% albino
 Mendel’s 2nd Law
Different gene pairs assort independently
in gamete formation.

.This “law” is true only in some cases

Gene
Gene pairs
pairs on
on SEPARATE
SEPARATE CHROMOSOMES
CHROMOSOMES
assort
assort independently
independently at
at meiosis.
meiosis.
Dihibrid
Male: NORMAL

X
Female: Albino
SKIN
RHESUS -
RHESUS +

AA RhRh aa rhrh
 
gamete: ARh gamete: arh
F1 AaRhrh (normal, rhesus +)
Gamete: ARh; Arh; aRh; arh

NOTE:
GEN A: NORMAL SKIN
GEN a: ALBINO
GEN Rh: RHESUS +
GEN rh: RHESUS -
Normal-rhesus + : 9
Normal-rhesus- : 3
Albino-rhesus+ : 3
Albino-rhesus- :1
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 located in sexual chromosome
XG=Blood
Sist. Gol darah
group Xg Xg
system
XG ic= Ichtiosis
Xm oc= Ocular albinisme
cb ak= Angiokeratoma
gd Xm=Sist.serum albumin
hp de= Deuteranopia
Ae gd= Glucosa 6 phospat dehydrogenase deficiency
cm pro= Protonopia
Un
Takhomolog
homolog nb wc ha=Hemophilia A
an ng hb= Hemophilia B
md ht md= Muscular distrophy
am= Amolar
nb= Night Blindness
tc 9
an= Anodontia
xb 14 Ae= Anenamel
po 17 tc= Total colour Blindness
sp 18 xp= Xeroderma pigmentosa
Homolog Eb 20 Wt= Webbed Toes
rp 28 ht= Hyper Trichosis

X hd 34
Y hg= Hystrix Gravor
hd= Hemorhagic Diastesis
 Colorblindness

Male:
Normal X Female:
Normal

M/F X Y
X XX XY
Xb XX b XbY

Male: Normal: Color blindness: 1:1

Female: Normal: 1  carrier:1
Pedigree
Pedigree is a diagram of a family tree showing the phenotype
of each individual among a group of relatives
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
1. Autosomal or X-link ?
2. Dominant or recessive ?
3. No 12 and No 15 Genotype ?
Observation:
Early affective was woman in first generation and then three
generation off
Sameness affective in male and female
 autosomal recessive
Outcome:
Genes will be inherited from generation to generation: (1/2)n
n: generation
Gene A: normal, a: albinism
Person (1): p(a): ¼
Person (2): p(a): ½
First child become albinism: (1/4)(1/2)= 1/8
https://www.youtube.com/watch?v=mD0Onu2ArGA

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