AUTOSOMAL DOMINANT & RECESSIVE ________________________________________

September 30, 2002

International Programme - GMU

AUTOSOMAL RECESSIVE INHERITANCE

By: Hartono

CAUSED BY:
 A pair of mutant genes
 In autosome
 Mutant gene recessive

ALLELE IN HOMOLOGOUS CHROMOSOMES

 Both normal (AA) : Normal homozygote
 Both mutant (aa) : Sick (homozygote)
 1N – 1 M (Aa) : Normal Heterozygote

FREQUENCY
Female = Male

WHY THE MUTANT GENE IS RECESSIVE ?

 Explanation:
- Enzyme activity
- Normal requirement : 1000 units

A A A a a a

1500µ 1500µ 1500µ 100µ 100µ

100µ

supply = 3000µ 1600µ

200µ

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AUTOSOMAL DOMINANT & RECESSIVE ________________________________________
September 30, 2002
International Programme - GMU

still sufficient insufficient

(healthy) (sick)
CHARACTERISTICS OF AR INHERITANCE
1. Sick individu need a pair of mutant genes  aa
AA Aa aa
normal heterozygote sick
(carrier)

2. Both parent minimally has a recessive mutant gene

a). Aa x Aa (P)

AA Aa Aa aa

b). Aa x Aa (P)

AA Aa Aa aa

c). Aa x Aa (P)

AA Aa Aa aa

3. Heterozygote individu is nrmal. Normal gene suppresses the

expression of mutant gene.
4. Sick individu was usually born by normal parents
* The parents are carrier (heterozygote)
5. The ratio of normal and sick off springs of heterozygote parents is 3 :
1

Aa x Aa (P)

AA Aa Aa aa (c)

hea;thy = p sick = q
p=3/4 q=1/4

• The probability of offspring conditions in heterozygotes mating with

three children
• Pascal triangle

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 AUTOSOMAL DOMINANT & RECESSIVE ________________________________________
September 30, 2002
International Programme - GMU

p3 3p2q 3pq2 q3
• A heterozygotes couple want to have 3 children: the probability of:
1). All children are healthy
p3 = (3/4)3 = 27/64
2). Two healthy and 1 sick children
3p2q = 3(3/4)(1/4) = 27/64
3). One healthy and 2 sick children
3pq2 = 3(3/4)(1/4)2 = 9/64
4). All children are sick
q3 = (1/4)3 = 1/64
• In population  ?
• Inbreeding increase the frequency of ar disease

EXAMPLES:
• Examples of normal characters (see text)
• Examples of ar disease (see text  metabolic disease)

HETEROZYGOTE (CARRIER)
• Can be known for example by:
 Enzyme activity
 Protein electrophoresis
 Body electric recordings
- EEG – ECG
 Sensoric
- Audiometry
 Etc
• Can not be known

HETEROZYGOTE NUMBER
• HN = 1/50  AA = 49
Aa = 1
• Mating probability between heterozygote
= 1/50 x 1/50 = 1/2500

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AUTOSOMAL DOMINANT & RECESSIVE ________________________________________
September 30, 2002
International Programme - GMU

• Sick child
= 1/2500 x ¼ = 1/10,000
• 1/10,000 = frequency of the disease in the population
FREQUENCY OF AR DISEASE IN A POPULATION
• Frequencey = 1/10,000
• HN = 2 x 1 / 10 ,000

= 1/50

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