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Question

If both the parents are carriers of the beta thalassaemia gene, the chance of having a child with thalassaemia major in each pregnancy is

The correct answer is
25%

Beta Thalassaemia Inheritance Probability

Beta thalassaemia is an autosomal recessive genetic disorder. This means an individual needs to inherit two copies of the altered gene (one from each parent) to have the condition, known as beta thalassaemia major.

A 'carrier' of the beta thalassaemia gene has one normal gene and one altered gene. They typically do not exhibit severe symptoms but can pass the altered gene to their children. If both parents are carriers, they each have the genotype $Aa$ (where $A$ is the normal allele and $a$ is the beta thalassaemia allele).

Punnett Square Analysis

To determine the probability for each pregnancy, we can use a Punnett square:

$A$ $a$
$A$ $AA$ $Aa$
$a$ $Aa$ $aa$

Offspring Genotypes and Risks

  • $AA$ (25%): Child inherits a normal gene from both parents. The child will be unaffected and not a carrier.
  • $Aa$ (50%): Child inherits one normal gene and one altered gene. The child will be a carrier like the parents.
  • $aa$ (25%): Child inherits the altered gene from both parents. The child will have beta thalassaemia major.

Therefore, in each pregnancy, there is a 25% chance that the child will inherit the beta thalassaemia major condition ($aa$).

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Important Questions from Congenital Disorders

  1. Which of the following is NOT a maternal risk factor for the development of a neural tube defect?

  2. Trisomy 13 is also known as:
  3. Which one of the following is a type of glycogen storage disease?
  4. Which of the following biochemical tests for the detection of aneuploidies is performed in the first trimester of pregnancy?

  5. Which of the following is NOT a birth defect related to a disorder in the development of the whole eyeball?

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