Human Anatomy & Physiology (11th Edition)
Human Anatomy & Physiology (11th Edition)
11th Edition
ISBN: 9780134580999
Author: Elaine N. Marieb, Katja N. Hoehn
Publisher: PEARSON
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A man has a very rare genetic disorder that affects the degradation of his hemoglobin. He
experiences extreme excruciating pain when exposed to sunlight. The pain was due to the
disintegration of the protoporphyrin rings by free radicals produced by high energy photons from
light.
The man's genetic defect appears to be due to the mutation of the promoter region of a protein
X. This protein is an activator of an enzyme Y that detoxifies reactive oxygen species and free
radicals. DNA sequence analysis using the Sanger method of the mutated region around the
TATA box detected the following products:
ddNTP
Normal
With Genetic Disorder
tetranucleotide
+ddTTP
tetranucleotide
pentanucleotide
pentanucleotide
heptanucleotide
heptanucleotide
+ddATP
mononucleotide
mononucleotide
trinucleotide
trinucleotide
hexanucleotide
+ddCTP
dinucleotide
dinucleotide
nonanucleotide
hexanucleotide
nonanucleotide
+ddGTP
octanucleotide
octanucleotide
decanucleotide
decanucleotide
What base was altered and to what was it changed?
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Transcribed Image Text:A man has a very rare genetic disorder that affects the degradation of his hemoglobin. He experiences extreme excruciating pain when exposed to sunlight. The pain was due to the disintegration of the protoporphyrin rings by free radicals produced by high energy photons from light. The man's genetic defect appears to be due to the mutation of the promoter region of a protein X. This protein is an activator of an enzyme Y that detoxifies reactive oxygen species and free radicals. DNA sequence analysis using the Sanger method of the mutated region around the TATA box detected the following products: ddNTP Normal With Genetic Disorder tetranucleotide +ddTTP tetranucleotide pentanucleotide pentanucleotide heptanucleotide heptanucleotide +ddATP mononucleotide mononucleotide trinucleotide trinucleotide hexanucleotide +ddCTP dinucleotide dinucleotide nonanucleotide hexanucleotide nonanucleotide +ddGTP octanucleotide octanucleotide decanucleotide decanucleotide What base was altered and to what was it changed?
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