Question:

Match the following

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Remember the genetic basis for common human genetic disorders: Sickle cell anemia is a point mutation, Klinefelter syndrome is XXY, Turner syndrome is XO, and Down syndrome is Trisomy 21.
Updated On: Jun 3, 2025
  • A-III, B-V, C-IV, D-II
  • A-III, B-V, C-I, D-II
  • A-II, B-I, C-V, D-III
  • A-I, B-II, C-IV, D-V
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The Correct Option is B

Solution and Explanation

Step 1: Understand the genetic basis of each disorder

  • Sickle cell anaemia: A genetic blood disorder caused by a single nucleotide substitution (point mutation) in the gene encoding the beta-globin chain.
  • Klinefelter syndrome: A chromosomal condition in males caused by an extra X chromosome, resulting in 47, XXY karyotype.
  • Turner syndrome: A chromosomal condition in females caused by the absence of one X chromosome, resulting in 45, X karyotype.
  • Down syndrome: A chromosomal disorder caused by an extra copy of chromosome 21 (trisomy 21).

Step 2: Match each disorder with its genetic characteristic

  • A) Sickle cell anaemia: III. Point mutation
  • B) Klinefelter syndrome: V. 47, XXY
  • C) Turner syndrome: I. 45, X
  • D) Down syndrome: II. Trisomy of chromosome 21

Step 3: Compare matches with given options

Our matches: A-III, B-V, C-I, D-II

  • (1) A-III, B-V, C-IV, D-II - Incorrect (C is incorrect)
  • (2) A-III, B-V, C-I, D-II - Correct (matches perfectly)
  • (3) A-II, B-I, C-V, D-III - Incorrect
  • (4) A-I, B-II, C-IV, D-V - Incorrect

The final answer is option 2.

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