Molecular basis of heat labile hexosaminidase B among Jews and Arabs
| ISSN: | 1098-1004 1059-7794 |
|---|---|
| DOI: | 10.1002/(sici)1098-1004(1997)10:6<424::aid-humu2>3.3.co;2-y |
| Přístupová URL adresa: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00361f12de8bbeb53e727a1f002299d2 https://doi.org/10.1002/(sici)1098-1004(1997)10:6<424::aid-humu2>3.3.co;2-y |
| Rights: | CLOSED |
| Přírůstkové číslo: | edsair.doi.dedup.....00361f12de8bbeb53e727a1f002299d2 |
| Autor: | Ginat Narkis, Ruth Navon, Avinoam Adam, Lutfi Jaber, Mark Pennybacker, Richard L. Proia |
| Rok vydání: | 1997 |
| Předmět: |
Male
Hot Temperature Genotype DNA Mutational Analysis Sandhoff disease Biology Exon Hexosaminidase A Hexosaminidase B Enzyme Stability medicine Genetics Humans Point Mutation Genotyping Gene Polymorphism Single-Stranded Conformational Genetics (clinical) Tay-Sachs Disease integumentary system Single-strand conformation polymorphism medicine.disease Molecular biology beta-N-Acetylhexosaminidases Arabs Pedigree HEXB Jews Mutation (genetic algorithm) Female HeLa Cells |
| Zdroj: | Human Mutation. 10:424-429 |
| ISSN: | 1098-1004 1059-7794 |
| DOI: | 10.1002/(sici)1098-1004(1997)10:6<424::aid-humu2>3.3.co;2-y |
| Popis: | Genotyping individuals for Tay-Sachs disease (TSD) is mainly based on the heat lability of beta-hexosaminidase (Hex) A (alphabeta) and the heat stability of Hex B (betabeta). Mutations in the HEXB gene encoding the beta-subunits of Hex that result in heat-labile Hex B thus may lead to erroneous enzymatic genotyping regarding TSD. Utilizing single strand conformation polymorphism (SSCP) analysis for all 14 exons of HEXB followed by direct sequencing of aberrant fragments, we screened individuals whose Hex B was heat labile. A novel heat labile mutation, previously concluded to exist in the HEXB gene, was identified among Jews and Arabs as 1627 G-->A. One individual with heat labile Hex B (HLB) was negative for this novel mutation and for the known 1514 G-->A HLB mutation, proving that there exists at least one other unidentified HLB mutation. Based on these results, it is advisable to perform DNA tests for 1627 G-->A mutation in suspected HLB individuals. |
| Databáze: | OpenAIRE |
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