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Q.Write and explain three Mendelian disorders and two chromosomal disorders. OR Discuss the different evidences found that support evolution.

Nagaland NbseNagaland Board of School Education 2024Subjective· 5mImportance★★★★★
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Mendelian (single-gene) disorders include haemophilia, sickle-cell anaemia, and phenylketonuria; chromosomal disorders (aneuploidy) include Down's and Klinefelter's syndromes.

Three Mendelian disorders (caused by alteration/mutation in a single gene, traceable by pedigree analysis):

  1. Haemophilia — an X-linked recessive disorder in which a protein essential for blood clotting is missing/defective, so even a minor injury results in non-stop bleeding; occurs almost exclusively in males, with females typically being unaffected carriers.
  2. Sickle-cell anaemia — an autosomal recessive disorder caused by a single point mutation in the β-globin gene (glutamic acid replaced by valine at position 6), producing an abnormal haemoglobin (HbS) that distorts red blood cells into a sickle shape under low oxygen tension; homozygotes (HbSHbS) show the disease.
  3. Phenylketonuria (PKU) — an autosomal recessive metabolic disorder in which the affected individual lacks the enzyme that converts the amino acid phenylalanine into tyrosine; phenylalanine and its derivatives accumulate and get excreted in urine, and the condition also leads to mental disability if untreated.

Two chromosomal disorders (caused by an abnormal number, or structure, of chromosomes, typically due to non-disjunction during gamete formation): …

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