Serum β-hexosaminidases in pregnancy
| Autor: | J.A. Lowden |
|---|---|
| Rok vydání: | 1979 |
| Předmět: |
medicine.medical_specialty
Activity ratios Clinical Biochemistry Early pregnancy factor Biochemistry Chromatography DEAE-Cellulose Pregnancy Internal medicine medicine Humans Hexosaminidase Beta (finance) Tay-Sachs Disease integumentary system biology Chemistry Genetic Carrier Screening Biochemistry (medical) Sandhoff Disease Heterozygote advantage General Medicine medicine.disease Hexosaminidases carbohydrates (lipids) Isoelectric point Endocrinology embryonic structures biology.protein Female Isoelectric Focusing |
| Zdroj: | Clinica Chimica Acta. 93:409-417 |
| ISSN: | 0009-8981 |
| DOI: | 10.1016/0009-8981(79)90292-4 |
| Popis: | Serum contains several hexosaminidase forms. Two, HEX A and HEX B, migrate in both DEAE cellulose and isoelectric focussing systems like their tissue counterparts. A major group of serum hexosaminidases migrate in an intermediate position. These forms, collectively named HEX I, increase during pregnancy and obscure carrier detection for Tay-Sachs and Sandhoff's disease. Using DEAE-cellulose chromatography, HEX A, I, and B, can be clearly separated. In normals, activity ratios of A/B are 4.03 ± 1.33. During pregnancy the ratio falls slightly to 3.01 ± 1.08. In Tay-Sachs heterozygotes the ratio is only 1.08 ± 0.35 amd falls during early pregnancy to 0.53 ± 0.23. In Sandhoff heterozygotes the DEAE chromatograms appear normal with higher than normal A/B ratios but in sera, from both pregnant and nonpregnant carriers, the HEX B and HEX I forms are 50% heat labile. During pregnancy, serum can be used as a reliable source of HEX for heterozygote identification for both Sandhoff's and Tay-Sachs disease. |
| Databáze: | OpenAIRE |
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