Class 12 · Principles of Inheritance and Variation

Types of Mutations: Point & Frame-Shift — NEET Biology

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📖 NCERT Source

In addition to the above, mutation also arise due to change in a single base pair of DNA. This is known as point mutation. A classical example of such mutation is sickle cell anemia. Deletions and insertions of base pairs of DNA, causes frame-shift mutations (see Chapter 5).

NCERT Biology · Class 12 · Chapter 4 · Paragraph 76
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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

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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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What does NCERT say about addition to above mutation?
In addition to the above, mutation also arise due to change in a single base pair of DNA. This is known as point mutation.
Has this concept appeared in NEET?
Practice this NCERT concept with questions on MedicNEET.
Which chapter is this from?
Principles of Inheritance and Variation, Class 12 NCERT Biology.

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