Question Details

The reason why haemophilia is more commonly observed in human males than in females is due to

Options

A

the disease is due to Y-linked recessive mutation

B

the disease is due to X-linked dominant mutation

C

the disease is due to X-linked recessive mutation

D

as a huge population of girls die in infancy

Correct Answer :

the disease is due to X-linked recessive mutation

Solution :

The correct answer is the disease is due to X-linked recessive mutation.

To understand why haemophilia is more commonly observed in human males than in females, we need to look at how the disease is inherited genetically:
1. Sex Chromosomes in Humans:
Females have two X chromosomes (XX), while males have one X and one Y chromosome (XY).
2. Nature of the Mutation:
Haemophilia is a genetic disorder caused by a recessive mutation on the X chromosome (an X-linked recessive trait). Let us denote the normal allele as XH and the mutant (haemophilic) allele as Xh.
3. Expression in Males (XY):
Since males possess only one X chromosome, they inherit only a single allele for X-linked genes. If a male inherits the mutant allele (XhY), he does not have a second X chromosome with a normal allele to mask it. Therefore, a single copy of the mutant allele is sufficient to cause the disease in males.
4. Expression in Females (XX):
For a female to exhibit haemophilia, she must inherit two copies of the mutant allele (XhXh) — one from her mother and one from her father. If she inherits only one mutant allele (XHXh), the dominant normal allele on the other X chromosome masks the expression of the recessive mutant allele, making her an unaffected carrier.
5. Conclusion:
Because males require only one copy of the recessive gene to show the disease whereas females require two, haemophilia is much more frequently observed in males.

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