Question Details

Alpha 1 anti-trypsin deficiency is an autosomal recessive genetic disorder. What are the chances that any of the offspring do not express the disease phenotype if both parents are genotype (Aa)?

Options

A

100 per cent

B

75 per cent

C

50 per cent

D

0 per cent

Correct Answer :

75 per cent

Solution :

The correct option is 75 per cent.

Let's break down the genetic inheritance step-by-step to understand why this is the correct answer:

1. Understanding Autosomal Recessive Inheritance
Alpha-1 antitrypsin deficiency is an autosomal recessive disorder. In autosomal recessive inheritance:
- The dominant allele is represented as:
A
This allele is normal and does not cause the disease.
- The recessive allele is represented as:
a
This allele carries the mutation for the disorder.
- An individual must inherit two copies of the recessive allele:
aa
to express the disease phenotype.
- Individuals with genotypes:
AA
or heterozygous:
Aa
do not express the disease phenotype and are healthy.

2. Analyzing the Parents' Genotypes
Both parents are heterozygous:
Aa
This means each parent has one normal allele and one mutated allele, and can pass on either allele to their offspring with a 50% chance.

3. Setting up the Genetic Cross (Punnett Square)
When crossing two heterozygous parents (Aa × Aa), the possible combinations of alleles in the offspring are:
1. Dominant allele from both parents:
AA
(unaffected, non-carrier)
2. Dominant allele from one parent and recessive from the other:
Aa
(unaffected carrier)
3. Recessive allele from one parent and dominant from the other:
aA
(unaffected carrier)
4. Recessive allele from both parents:
aa
(affected by the disease)

4. Calculating the Probability
Out of the 4 possible outcomes, the genotypes that do not express the disease phenotype are:
AA
,
Aa
, and
aA
(which is equivalent to Aa). This is a total of 3 out of 4 outcomes.

We can calculate the probability as follows:

Probability = 3 4 = 75 %

Therefore, there is a 75 per cent chance that any offspring of these parents will not express the disease phenotype.

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