Radioimmunoassay and heat denaturation enzyme assay for the detection of Tay-sachs heterozygotes during pregnancy
| Autor: | C. Nguyen, D. Mahuran, J.A. Lowden, R.J.M. Gold |
|---|---|
| Rok vydání: | 1981 |
| Předmět: |
Adult
Male Protein Denaturation Clinical Biochemistry Statistics as Topic Radioimmunoassay Biochemistry Isozyme Discriminatory power Hexosaminidase A Pregnancy Acetylglucosaminidase medicine Humans Hexosaminidase Heat denaturation Diagnostic Errors Chromatography Tay-Sachs Disease integumentary system biology Chemistry Genetic Carrier Screening Biochemistry (medical) Heterozygote advantage General Medicine medicine.disease Molecular biology Enzyme assay beta-N-Acetylhexosaminidases carbohydrates (lipids) Isoenzymes Hexosaminidases embryonic structures biology.protein Female |
| Zdroj: | Clinica chimica acta; international journal of clinical chemistry. 113(1) |
| ISSN: | 0009-8981 |
| Popis: | Tay-Sachs disease results from a loss of activity of hexosaminidase A (HEX A) 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 does 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 radioimmunoassays 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. |
| Databáze: | OpenAIRE |
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