Document Detail

Hereditary heat-labile hexosaminidase B: its implication for recognizing Tay-Sachs genotypes.
MedLine Citation:
PMID:  6459736     Owner:  NLM     Status:  MEDLINE    
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 activities, and calculating the ratio between them. Of the nine genotype combinations possible with these two pairs of alleles, five have been identified in the reported family by this procedure.
R Navon; J Nutman; R Kopel; L Gaber; N Gadoth; B Goldman; M Nitzan
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of human genetics     Volume:  33     ISSN:  0002-9297     ISO Abbreviation:  Am. J. Hum. Genet.     Publication Date:  1981 Nov 
Date Detail:
Created Date:  1982-03-13     Completed Date:  1982-03-13     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  0370475     Medline TA:  Am J Hum Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  907-15     Citation Subset:  IM    
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MeSH Terms
Chromatography, Ion Exchange
Hexosaminidase A
Hexosaminidase B
Hexosaminidases / analysis,  genetics*
Hot Temperature
Prenatal Diagnosis
Tay-Sachs Disease / diagnosis,  enzymology*
Reg. No./Substance:
EC 3.2.1.-/Hexosaminidases; EC A; EC B; EC

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