Mutation is defined as change in the genetic material. A point mutation is a change of a single base pair in DNA. Sickle-cell anemia is caused due to change of one base in the gene coding for beta-chain of hemoglobin. Inheritable mutations can be studied by generating a pedigree of a family. Some mutations involve changes in whole set of
Match the following genetic concepts/disorders with their correct descriptions: Column I (Concept/Disorder) A. Point mutation B. Chromosomal aberration C. UV radiation D. Sickle-cell anaemia E. Phenylketonuria Column II (Description/Characteristic) I. Inborn error of metabolism affecting phenylalanine conversion II. Results from loss or gain of a segment of DNA III. Change in a single base pair of DNA IV. A physical mutagen, classified as non-ionizing V. Caused by a single base substitution in the beta globin chain gene
Correct answer: A — A-III, B-II, C-IV, D-V, E-I
Let's match each item from Column I to its correct description in Column II: A. Point mutation: This involves a change in a single base pair of DNA. (NCERT, Section 4.7) So, A-III. B. Chromosomal aberration: This results from the loss or gain of a segment of DNA, or alteration in chromosomes. (NCERT, Section 4.7) So, B-II. C. UV radiation: This is a physical mutagen. Although the NCERT text does not explicitly state it as non-ionizing in Chapter 4, the source question context implies this classification is expected knowledge within the topic of mutagens. So, C-IV. D. Sickle-cell anaemia: This is caused by a single base substitution (GAG to GUG) at the sixth codon of the beta globin gene, leading to the substitution of Glutamic acid by Valine. (NCERT, Section 4.8.2) So, D-V. E. Phenylketonuria: This is an inborn error of metabolism where the affected individual lacks an enzyme that converts phenylalanine into tyrosine, leading to accumulation of phenylpyruvic acid. (NCERT, Section 4.8.2) So, E-I. Therefore, the correct match is A-III, B-II, C-IV, D-V, E-I.
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