Which disease is caused by a point mutation?

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(A) point mutation is a change in a single base pair of $DNA$. Sickle cell anemia is a classic example of a point mutation where a single nucleotide s

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Sickle cell anemia

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(A) point mutation is a change in a single base pair of $DNA$. Sickle cell anemia is a classic example of a point mutation where a single nucleotide substitution ($GAG$ to $GUG$) occurs in the $\beta$-globin gene,leading to the substitution of glutamic acid with valine at the sixth position of the $\beta$-globin chain. Down's syndrome,Turner's syndrome,and Klinefelter's syndrome are chromosomal disorders caused by aneuploidy (gain or loss of chromosomes),not by point mutations.

Similar Questions

Which of the following disorders is more commonly observed in males than in females?

Given below are two statements:
Statement $I$: Sickle cell anaemia and Haemophilia are autosomal dominant traits.
Statement $II$: Sickle cell anaemia and Haemophilia are disorders of the blood.
In the light of the above statements,choose the correct answer from the options given below:

This type of disease is transmitted from a carrier mother to some of her sons.

In the $\beta$-globin chain of haemoglobin of an individual,if the sixth amino acid,Glutamic acid (Glu),is replaced by Valine (Val),then the individual will be suffering from:

Which of the following is not an autosomal dominant disorder?

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