You are investigating an autosomal recessive condition in an extended family. Th

Question

You are investigating an autosomal recessive condition in an extended family. The gene responsible for the condition is known, but the specific allele in the family under study is uncharacterized. Part A Do As part of your research, you examine mRNA expression for the parents, their two unaffected children, and their affected child with a Northern blot using a full-length cDNA probe. Your results, shown here, are as follows: Both parents have low, but detectable, mRNA expression. The unaffected children have either normal or low mRNA expression. The affected child has no detectable mRNA expression. What possible molecular defect could explain these results? Select every legitimate possibility from the choices below. The recessive allele could be a mutation in a splice donor or acceptor sequence that prevents proper mRNA splicing, leaving an intron in the spliced transcript The recessive allele could be a premature stop codon that prevents the translation of a full-length protein. The recessive allele could be a mutation in the transcribed region that makes the mRNA unstable and causes it to degrade. The recessive allele could be a mutation in regulatory DNA that prevents chromatin from being remodeled from a closed to an open state The recessive allele could be a mutation in the promoter region that prevents RNA polymerase Il from binding Submit Request Answer

Explanation / Answer

Answer: Options C, D, and E are correct.

Explanation:

Parental cross: Aa X Aa

Progeny: AA Aa Aa aa

AA = Thick band = High expression

Aa = Thin band = Intermediate expression

aa = No band = No detectable expression

From the analysis, it appears that the mutation is affecting the RNA stability.

D and E options are also correct as they affect the transcription status.

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