Beta-hexosaminidase splice site mutation has a high frequency among non-Jewish Tay-Sachs disease carriers from the British Isles.

doi:10.1136/jmg.29.8.563

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Article

Beta-hexosaminidase splice site mutation has a high frequency among non-Jewish Tay-Sachs disease carriers from the British Isles.

Journal of medical genetics - 1 Aug 1992

Landels E C, Green P M, Ellis I H, Fensom A H, Bobrow M

Abstract excerpt

In the course of defining mutations causing Tay-Sachs disease (TSD) in non-Jewish patients and carriers from the British Isles, we identified a guanine to adenine change (also previously described) in the obligatory GT sequence of the donor splice site at the 5' end of intron 9 of the hexosaminid...

Topics

Base Sequence
DNA
Heterozygote
Humans
Molecular Sequence Data
Mutation
Polymerase Chain Reaction
RNA Splicing
Tay-Sachs Disease
Transcription, Genetic
United Kingdom
beta-N-Acetylhexosaminidases

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