Article
A Pst+ polymorphism in the HEXA gene with an unusual geographic distribution.
European journal of human genetics : EJHG - 1 Jan 1993
Kaplan F, Kapoor S, Lee D, Fernandes M, Vienozinskis M, Mascisch A, Scriver C R, Lim-Steele J, Kaback M, Zeiger K, Zoossman-Diskin A, Bonne-Tamir B, Landels E, Bobrow M, Hechtman P
Abstract excerpt
A polymorphic variant in the human HEXA gene is described. This gene encodes the alpha-subunit of hexosaminidase A, the enzyme which is deficient in Tay-Sachs disease (TSD). In individuals carrying the polymorphism there is a T-->C transition at position -6 in intron 13. The substitution creates...
Topics
- Alleles
- Base Sequence
- Deoxyribonucleases, Type II Site-Specific
- Hexosaminidase A
- Humans
- Molecular Sequence Data
- Polymorphism, Genetic
- Tay-Sachs Disease
- beta-N-Acetylhexosaminidases