Article
Detection of Tay-Sachs disease carriers among individuals with thermolabile hexosaminidase B.
European journal of clinical chemistry and clinical biochemistry : journal of the Forum of European Clinical Chemistry Societies - 1 Feb 1994
Peleg L, Goldman B
Abstract excerpt
The determination of hexosaminidases A and B in most programmes for Tay-Sachs disease carrier detection is based on their different heat sensitivity (hexosaminidase A is the heat labile isoenzyme). This routine cannot be employed for individuals who also possess a thermolabile hexosaminidase B. I...
Topics
- Acetylglucosamine
- Chromatography, Ion Exchange
- Enzyme Stability
- Genetic Carrier Screening
- Genetic Testing
- Genotype
- Hexosaminidase A
- Hexosaminidase B
- Hot Temperature
- Humans
- Hymecromone
- Jews
- Substrate Specificity
- Tay-Sachs Disease
- beta-N-Acetylhexosaminidases