Article
A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening.
American journal of human genetics - 1 Oct 1992
Triggs-Raine B L, Mules E H, Kaback M M, Lim-Steele J S, Dowling C E, Akerman B R, Natowicz M R, Grebner E E, Navon R, Welch J P
Abstract excerpt
Deficiency of beta-hexosaminidase A (Hex A) activity typically results in Tay-Sachs disease. However, healthy subjects found to be deficient in Hex A activity (i.e., pseudodeficient) by means of in vitro biochemical tests have been described. We analyzed the HEXA gene of one pseudodeficient subje...
Topics
- Amino Acid Sequence
- Base Sequence
- DNA
- Female
- Genetic Carrier Screening
- Genetic Testing
- Hexosaminidase A
- Humans
- Infant, Newborn
- Jews
- Leukocytes
- Male
- Molecular Sequence Data
- Mutation
- Oligodeoxyribonucleotides