Molecular basis of heat labile hexosaminidase B among Jews and Arabs

G. Narkis, A. Adam, L. Jaber, M. Pennybacker, R. L. Proia, R. Navon

Research output: Contribution to journalArticlepeer-review


Genotyping individuals for Tay-Sachs disease (TSD) is mainly based on the heat lability of β-hexosaminidase (Hex) A (αβ) and the heat stability of Hex B (ββ). Mutations in the HEXB gene encoding the β-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.

Original languageEnglish
Pages (from-to)424-429
Number of pages6
JournalHuman Mutation
Issue number6
StatePublished - 1997
Externally publishedYes


  • HEXB mutations
  • Heat-labile Hex B
  • Sandhoff disease
  • Tay-Sachs disease


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