O a base substitution in an intron 5' splice site O a frameshift in an exon O a missense in an exon O a base substitution in an enhancer region

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
Section: Chapter Questions
Problem 1RQ: The correct sequence of levels forming the structural hierarchy is A. (a) organ, organ system,...
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Nonfunctional HexA protein is responsible for the autosomal recessive
disease Tay Sachs. A patient with Tay Sachs produces a normal amount of
full length but non-functional HexA protein. Of the choices below, what is the
most likely type of mutation responsible for the disease?
O a base substitution in an intron 5' splice site.
a frameshift in an exon
O a missense in an exon
O a base substitution in an enhancer region
Transcribed Image Text:Nonfunctional HexA protein is responsible for the autosomal recessive disease Tay Sachs. A patient with Tay Sachs produces a normal amount of full length but non-functional HexA protein. Of the choices below, what is the most likely type of mutation responsible for the disease? O a base substitution in an intron 5' splice site. a frameshift in an exon O a missense in an exon O a base substitution in an enhancer region
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