1. Tay-Sachs disease
... -Canadian populations. The second mutation is Tay-Sachs disease [HexA, IVS< G-C, +1]. It is found in 20% of Ashkenazi patients and carriers. It is a G-C base substitution in the first nucleotide of intron 12. This results in defective splicing of the mRNA(Arpaia et al, 1988). Another form of Tay-Sachs disease is Adult onset Tay-Sachs [HexA, GLY269SER]. This form of Tay ... . In 1986, a study of 2 Ashkenazi and 2 French-Canadian carriers concluded the populations had different mutations. Tay-Sachs disease [HexA 7.6-kbDEL, EX1] is a deletion mutation. 7.6 kilobases are deleted, including pa...
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- Grade Level: High School