Question: Select the FALSE statement about Tay - Sachs disease : GM 2 gangliosidoses are progressive neurodegenerative disorders caused by loss - of - function mutations
Select the FALSE statement about TaySachs disease :
GM gangliosidoses are progressive neurodegenerative disorders caused by lossoffunction mutations in any of the genes HEXA q HEXB q or GMA q
Hexosaminidase A and its associated GM activator protein are found in most tissues, but their deficiency causes severe swelling and cell death only in neurons.
Individuals from highrisk populations carrier frequencies ca or with a family history of TaySachs disease, can learn their carrier status from serum screening for hexosaminidase A followed by DNA sequencing if the serum activity is low.
Infants of parents who are both carriers of a null allele of HEXA have a prior risk of TaySachs disease. Prenatal testing can be used to decide whether to continue normal & carrier or terminate affected the pregnancy. Where legal, elective abortion has reduced the incidence of TaySachs disease in highrisk communities by as much as
Prenatal testing cannot reliably predict the occurrence, or the severity of TaySachs disease.
During their first few months, TaySachs infants develop normally.
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