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Q.What are Mendelian disorders? Explain in detail

(i) any one sex-linked recessive disease
(ii) any one autosome-linked recessive disease. OR What are chromosomal disorders? Explain any three chromosomal disorders.
Nagaland NbseNagaland Board of School Education 2021Subjective· 5mImportance★★★★★
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Mendelian disorders are single-gene disorders; haemophilia (X-linked recessive) and sickle-cell anaemia (autosomal recessive) are classic examples.

Mendelian disorders: These are disorders caused by alteration/mutation in a single gene, and their pattern of inheritance can be traced through a family (via pedigree analysis) according to the principles established by Mendel. They can be dominant or recessive, and autosomal or sex-linked.

(i) Sex-linked recessive disease — Haemophilia: A disease where a single protein (a clotting factor) required for normal blood clotting is missing. The gene is located on the X-chromosome, and the disorder is transmitted from an unaffected/carrier mother to some sons. In an affected individual, even a minor cut/injury results in non-stop bleeding. Since females need two copies of the defective allele (rare) to be affected, they are usually carriers; the disease manifests almost exclusively in males (who need only one copy, being XY).

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