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Literature DB >> 1825851

Tay-Sachs disease heterozygote detection: use of a centrifugal analyser for automation of hexosaminidase assays with two different artificial substrates.

E C Landels¹, I H Ellis, M Bobrow, A H Fensom.

Abstract

An assay for measuring hexosaminidase A in serum and leucocytes is described in which a centrifugal analyser is used for automation of the enzyme assays after manual heat inactivation. The assay was used in a screening programme to identify heterozygotes for Tay-Sachs disease in Ashkenazi Jewish subjects in the UK. The first results from this programme indicate a carrier frequency of 1 in 27. Automation of an assay for direct measurement of hexosaminidase A in serum using 4-methyl-umbelliferyl-beta-N-acetylglucosamine-6-sulphate as substrate is also described. Comparison of data obtained from 66 control and 30 obligate carrier sera tested by this method and by heat inactivation showed improved discrimination using the sulphated substrate. Results obtained using the sulphated substrate for screening serum during pregnancy are also presented.

Entities: Chemical Disease

Mesh：

Substances：

Year: 1991 PMID： 1825851 PMCID： PMC1016777 DOI： 10.1136/jmg.28.2.101

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

13 in total

1. Protein measurement with the Folin phenol reagent.

Authors: O H LOWRY; N J ROSEBROUGH; A L FARR; R J RANDALL
Journal: J Biol Chem Date: 1951-11 Impact factor: 5.157

2. Automated thermal fractionation of serum hexosaminidase: effects of alteration in reaction variables and implications for Tay-Sachs disease heterozygote screening.

Authors: M M Kaback; G Bailin; P Hirsch; C Roy
Journal: Prog Clin Biol Res Date: 1977

3. Screening for carriers of Tay-Sachs disease: A community project.

Authors: J A Lowden; S Zuker; A J Wilensky; M A Skomorowski
Journal: Can Med Assoc J Date: 1974-08-03 Impact factor: 8.262

4. Separation and characterisation of N-acetyl- -glucosaminidases A and P from maternal serum.

Authors: J L Stirling
Journal: Biochim Biophys Acta Date: 1972-06-22

5. Beta-galactosidase, beta-glucosidase and N-acetyl-beta-glucosaminidase in human kidney.

Authors: N Dance; R G Price; D Robinson; J L Stirling
Journal: Clin Chim Acta Date: 1969-05 Impact factor: 3.786

6. Statistical methods for assessing agreement between two methods of clinical measurement.

Authors: J M Bland; D G Altman
Journal: Lancet Date: 1986-02-08 Impact factor: 79.321

7. Tay-sachs disease. Detection of heterozygotes and homozygotes by serum hexosaminidase assay.

Authors: J S O'Brien; S Okada; A Chen; D L Fillerup
Journal: N Engl J Med Date: 1970-07-02 Impact factor: 91.245

8. The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase.

Authors: R Myerowitz; F C Costigan
Journal: J Biol Chem Date: 1988-12-15 Impact factor: 5.157

9. Synthesis of 4-methylumbelliferyl-beta-D-N-acetylglucosamine-6-sulfate and its use in classification of GM2 gangliosidosis genotypes.

Authors: J Bayleran; P Hechtman; W Saray
Journal: Clin Chim Acta Date: 1984-11-15 Impact factor: 3.786

3. Beta-hexosaminidase splice site mutation has a high frequency among non-Jewish Tay-Sachs disease carriers from the British Isles.

Authors: E C Landels; P M Green; I H Ellis; A H Fensom; M Bobrow
Journal: J Med Genet Date: 1992-08 Impact factor: 6.318

3 in total