Document Detail

Radioimmunoassay and heat denaturation enzyme assay for the detection of Tay-sachs heterozygotes during pregnancy.
MedLine Citation:
PMID:  6453673     Owner:  NLM     Status:  MEDLINE    
Tay-Sachs disease results from a loss of activity of hexosaminidase A (HEXA) in body tissues and fluids. Heterozygotes for the disease are usually identified by their relatively low ratio of heat-labile HEX A to total hexosaminidase. During pregnancy an intermediate isoenzyme (HEX I) increases in activity in serum and obscures the heterozygote status. HEX I dose not increase in leucocytes, tears and other body tissues but because of technical difficulties in these assays we examined the feasibility of using a radioimmunoassay for HEX A. By univariate analysis, the heat denaturation assay gave a lower cost of misclassification for non-pregnant normals while RIA did so for pregnant normals. A combination of both tests led to reduced cost of misclassification compared to either alone. Bayesian analysis of bivariate gaussian density functions for heat denaturation and for radioimmunoassay of HEX isoenzymes was employed to calculate misclassification frequencies. Among the parameters examined, HEX A measured by RIA and % HEX A by heat-denaturation assay were the two having the best discriminatory power.
C Nguyen; R J Gold; D Mahuran; J A Lowden
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Clinica chimica acta; international journal of clinical chemistry     Volume:  113     ISSN:  0009-8981     ISO Abbreviation:  Clin. Chim. Acta     Publication Date:  1981 Jun 
Date Detail:
Created Date:  1981-08-20     Completed Date:  1981-08-20     Revised Date:  2007-11-15    
Medline Journal Info:
Nlm Unique ID:  1302422     Medline TA:  Clin Chim Acta     Country:  NETHERLANDS    
Other Details:
Languages:  eng     Pagination:  13-25     Citation Subset:  IM    
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MeSH Terms
Acetylglucosaminidase / blood*
Diagnostic Errors
Heterozygote Detection / methods*
Hexosaminidase A
Hexosaminidases / blood*
Isoenzymes / blood*
Protein Denaturation
Radioimmunoassay / methods
Statistics as Topic
Tay-Sachs Disease / enzymology*
Reg. No./Substance:
0/Isoenzymes; EC 3.2.1.-/Hexosaminidases; EC; EC A; EC

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

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