The table in this problem summarizes some of the data that have been collected o

Question

The table in this problem summarizes some of the data that have been collected on BRCA1 mutations in families with a high incidence of both early-onset breast cancer and ovarian cancer Part A Note the coding effect of the mutation found in kindred group 2082. This results from a single base pair substitution. Choose the normal possible double- stranded DNA sequences for this codon. Assume that the mutation resulted from an uncorrected mismatch event during DNA replication. Note that mRNA triplets for glutamine are CAG and CAA. The mRNA triplet that specifies a stop is one of three: UAA, UAG, or UGA Predisposing Mutations in BRCA1 Fraquency in Control Nucdeotide Coding Select the two correct answers Kindred Codon Change Effect 1901 4 -11 bp Frameshif 0/180 5-GTT-3 coding 3-CAA-5 template or splice 2082 1313 C-+ T Gln . . Stop 0/170 1910 1756 Extra C Frameshift 2099 1775 T-G Met Arg 0/120 2035 NA 5'-CAG-3' coding 3-GTC-5' template 0/162 5-CTG-3' coding 3'-GAC-5' template ? Loss of NA transcipt o1994. Science 266: 66-71. OAAAS NA indicates not applicable, as the regulatory mutation is inferred, and the position has not been identified 5-CAA-3 coding 3-GTT-5 template 5-TTG-3' coding 3'-AAC-5' template 5-GTC-3' coding 3-CAG-5' template

Explanation / Answer

Answer: Options B and D are correct.

Explanation: Template strand sequence is complementary to the RNA sequence. The two codons for glutamine are CAG and CAA.

It is given that C is mutated to T resulting in a nonsense codon. So, when CAA and CAG are mutated, they would produce stop codons UAA and UAG resulting in premature termination of translation.

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