Mutations Interesting Facts For Tay-Sachs . . . .?
For Tay-Sachs . . . .? - mutations interesting facts
? Precise name of the gene
? Protien name encoded by the gene (if present)
? Legacy: the type of mutation (autosomal sex linked.)
? a recognition of the
? Research opportunities
? Other interesting facts
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2 comments:
Gene Name: HEX gene on chromosome 15
Name of the protein by the gene: hexosamindase protein encoded
Inheritance: recessive type of mutation: an autosomal
Carrier screening: the blood sample and enzyme assay (detects serum levels of beta-hexosamindase A)
Research Perspectives: research in gene therapy is considered the absence of disease, current treatment
Other interesting facts: the incidence of Tay-Sachs disease is particularly high among people of Jewish descent from Eastern Europe and Ashkenazi.
Here is a great site for information on Tay-Sachs
I hope that helps!
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