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
Related Documents :
15313466 - Characterization of a saccharomyces cerevisiae thermosensitive lytic mutant leads to th...
12848826 - The lower cell density of leaf parenchyma in the arabidopsis thaliana mutant lcd1-1 is ...
8953036 - Functional analysis of the genes of yeast chromosome v by genetic footprinting.
14564476 - Chromosome rearrangements in isolates that escape from het-c heterokaryon incompatibili...
20127486 - Genetic resistance to diet-induced obesity in chromosome substitution strains of mice.
11408066 - Dna copy number profiling in esophageal barrett adenocarcinoma: comparison with gastric...
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    
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
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

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Electrocardiographic observations in severe aortic valve stenosis: correlative necropsy study to cli...
Next Document:  The dehydroepiandrosterone loading test. IV. Evaluation of clinical utility.