Hereditary heat-labile hexosaminidase B: Its implication for recognizing Tay-Sachs genotypes

R. Navon, J. Nutman, R. Kopel, L. Gaber, N. Gadoth, B. Goldman, M. Nitzan

Research output: Contribution to journalArticlepeer-review

17 Scopus citations

Abstract

Two pairs of alleles, at the two loci of hexosaminidase (HEX), were found to segregate in an Arab inbred family; the normal and the mutant Tay-Sachs (TSD) alleles of HEX A, and the normal and a mutant allele of HEX B. Since the mutant HEX B is heat labile, no reliable identification of TSD genotypes can be obtained in its presence, as long as the proportions of HEX A and B are estimated by the routinely used heat-inactivation method. The genotypes may be correctly identified in such cases by separation of the two isoenzymes on ion-exchange chromatography, estimating their individual acivities, and calculating the ratio between them. Of the nine genotypic combinations possible with these two pairs of alleles, five have been identified in the reported family by this procedure.

Original languageEnglish
Pages (from-to)907-915
Number of pages9
JournalAmerican Journal of Human Genetics
Volume33
Issue number6
StatePublished - 1981

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