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🔬 Biology  ·  Principles of Inheritance and Variation  ·  NEET

The mutation that causes cystic fibrosis is most commonly:

  • A A point mutation creating a premature stop codon early in the CFTR transcript
  • B Deletion of 3 nucleotides in CFTR gene (phenylalanine deleted at position 508)
  • C Duplication of an entire arm of chromosome 7 during meiosis
  • D Insertion of an extra nucleotide causing a frameshift in the reading frame

Correct answer: B. Deletion of 3 nucleotides in CFTR gene (phenylalanine deleted at position 508)

Explanation: Most common CF mutation: DeltaF508 -- deletion of 3 nucleotides removes phenylalanine-508 from CFTR protein, causing misfolding and degradation.

Concept context

Mendel's laws, inheritance patterns, DNA structure, and molecular biology. Core of NEET biology.

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