Wilson's disease leads to liver damage as well as joint inflammation, kidney failure, uncontrolled shaking, and psychiat
Posted: Wed Jul 06, 2022 10:35 am
Wilson's disease leads to liver damage as well as joint inflammation, kidney failure, uncontrolled shaking, and psychiatric disturbances in humans. These symptoms all result from an accumulation of copper in the body because of one of several point mutations in the coding region of a single type of membrane transporter protein that normally exports copper from liver cells.
The Wilson's disease gene (ATP7B) has been mapped to chromosome 13 (13q14.3) and is expressed primarily in the liver, kidney and placenta (membrane transporter protein that normally exports copper). 1 in 30,000 people worldwide are afflicted with Wilson's disease. There are approximately 300 known alleles for Wilson's disease.
A newly discovered mutation H6532F causes a loss of function mutation and heterozygote individuals ARE NOT able to 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 a human carry at a given locus?
The Wilson's disease gene (ATP7B) has been mapped to chromosome 13 (13q14.3) and is expressed primarily in the liver, kidney and placenta (membrane transporter protein that normally exports copper). 1 in 30,000 people worldwide are afflicted with Wilson's disease. There are approximately 300 known alleles for Wilson's disease.
A newly discovered mutation H6532F causes a loss of function mutation and heterozygote individuals ARE NOT able to 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 a human carry at a given locus?