Asked in UHS MDCAT 2010 2010Moderate

Sickle cell Anaemia is an example of which type of chromosomal defect?

Correct answer: D. Point mutation

  • A. Chromosomal rearrangement
  • B. Transposition of gene
  • C. Chromosomal aberration
  • D. Point mutation

Explanation

Option [A] chromosomal rearrangement includes inversions,reciprocal translocations that can have effect on gene expression through positive effectsOption [B] Transposition of gene is the change in gene position.Option [C] chromosomal aberrations are the mega changes which involve presence of an extra chromosome or loss of chromosome from diploid number of chromosomes.Option [D] In Sickle cell anaemia,the 6th amino acid[ glutamic acid] is replaced by another amino acid [valine] in each haemoglobin BETA chain so haemoglobin is unable to carry out its normal function of carrying oxygen [haemoglobin becomes abnormal].In the nucleotide order,the nitrogenous base thymine is replaced by adenine.Since there is alterations in the sequence of DNA nucleotide so it is an example of POINT MUTATION [If alterations involve one or a few base pairs in the coding sequence they are called point mutation]. Hence option D is right.

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Chromosomes are DNA-protein structures that carry genes and become visible during cell division. Coverage includes chromatin, centromeres, sister chromatids, homologous chromosomes, chromosome number, and the distinction between diploid and haploid cells, with links to DNA replication, mitosis and meiosis.

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