Wilson's disease leads to liver damage as well as jointinflammation, kidney failure, uncontrolled shaking, and psychiatricdisturbances in humans. These symptoms all result from anaccumulation of copper in the body because of one of several pointmutations in the coding region of a single type of membranetransporter protein that normally exports copper from livercells.
The Wilson's disease gene (ATP7B) has been mapped to chromosome13 (13q14.3) and is expressed primarily in the liver, kidney andplacenta (membrane transporter protein that normally exportscopper). 1 in 30,000 people worldwide are afflicted with Wilson'sdisease. There are approximately 300 known alleles for Wilson'sdisease.
A newly discovered mutation H6532F causes a loss of functionmutation and heterozygoteindividuals ARE NOT ableto achieve adequate levels of functional protein.What can you conclude about the Wilson disease H6532F allele?
How many people worldwide has the ATP7B gene?
What is the maximum of number of alleles of the ATP7B gene can ahuman carry at a given locus?
Wilson's disease leads to liver damage as well as joint inflammation, kidney failure, uncontrolled shaking, and psychiat
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