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?

Human Anatomy & Physiology (11th Edition)
11th Edition
ISBN:9780134580999
Author:Elaine N. Marieb, Katja N. Hoehn
Publisher:Elaine N. Marieb, Katja N. Hoehn
Chapter1: The Human Body: An Orientation
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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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