Article
Prenatal diagnosis of a Japanese family at risk for Tay-Sachs disease. Application of a fluorescent competitive allele-specific polymerase chain reaction (PCR) method.
The Kobe journal of medical sciences - 1 Dec 1999
Tamasu S, Nishio H, Ayaki H, Lee M J, Mizutori M, Takeshima Y, Nakamura H, Matsuo M, Maruo T, Sumino K
Abstract excerpt
Tay-Sachs disease (TSD) is caused by mutation of the HEXA gene, which results in a deficiency of the alpha-subunit of hexosaminidase A. The major mutation in Japanese TSD is a G-to-T transversion at the 3'-splice site of intron 5. We established a fluorescent competitive allele-specific polymerase chain reaction (FCAS-PCR) method for detection of the mutation and applied it to prenatal diagnosis of a Japanese TSD...
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