Molecular basis of heat labile hexosaminidase B among Jews and Arabs

✍ Scribed by Ginat Narkis; Avinoam Adam; Lutfi Jaber; Mark Pennybacker; Richard L. Proia; Ruth Navon

• Publisher: John Wiley and Sons
• Year: 1997
• Tongue: English
• Weight: 201 KB
• Volume: 10
• Category: Article
• ISSN: 1059-7794
• DOI: 10.1002/(sici)1098-1004(1997)10:6<424::aid-humu2>3.0.co;2-d

✦ Synopsis

Communicated by Charles R. Scriver

Genotyping individuals for Tay-Sachs disease (TSD) is mainly based on the heat lability of Ä-hexosaminidase (Hex) A (~Ä) and the heat stability of Hex B (ÄÄ). Mutations in the HEXB gene encoding the Äsubunits 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 GÃA. One individual with heat labile Hex B (HLB) was negative for this novel mutation and for the known 1514 GÃA 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 GÃA mutation in suspected HLB individuals. Hum Mutat 10:424-429, 1997.