Mutations and Inborn Errors of Metabolism (1C)
Bio & Biochem · Flashcards
BIO & BIOCHEM · FLASHCARDS
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QUESTION
Identify the expected phenotype of a heterozygous carrier for an autosomal recessive IEM.
QUESTION
What is the probability that a child is a carrier if both parents are carriers for an autosomal recessive disorder?
QUESTION
Which mutation type is most likely to produce a premature stop codon: missense or nonsense?
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ANSWER
Nonsense. Nonsense mutations directly change a sense codon to a stop codon, unlike missense which alters amino acids without stopping translation.
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