Female with pentsuria. Makes no detectable "X" protein. X Is the reductase. Parents are third cousins (Each make -50% of normal “x" protein. Only patient has disorder. No "x" MRNA present. Genomic DNA analyses shows no "x" DNA sequences and “x"s first and last exon nave no amplification for PCR. Normal shows at 1.9 kb band. s mutation because of deletion of promoter, or del. Of whole gene locus? Why?

Nutrition Now
8th Edition
ISBN:9781337415408
Author:Brown
Publisher:Brown
Chapter26: Nutrient–gene Interactions In Health And Disease
Section: Chapter Questions
Problem 11RQ
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Female with pentsuria. Makes no detectable "x" protein. "X" is the reductase. Parents are third
cousins (Each make -50% of normal "x" protein. Only patient has disorder. No “x" MRNA
present. Genomic DNA analyses shows no “x" DNA sequences and "x"s first and last exon
have no amplification for PCR. Normal shows at 1.9 kb band.
Is mutation because of deletion of promoter, or del. Of whole gene locus? Why?
Transcribed Image Text:Female with pentsuria. Makes no detectable "x" protein. "X" is the reductase. Parents are third cousins (Each make -50% of normal "x" protein. Only patient has disorder. No “x" MRNA present. Genomic DNA analyses shows no “x" DNA sequences and "x"s first and last exon have no amplification for PCR. Normal shows at 1.9 kb band. Is mutation because of deletion of promoter, or del. Of whole gene locus? Why?
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