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HEXOSAMINIDASE A IN TEARS AND SALIVA FOR RAPID IDENTIFICATION OF TAY-SACHS DISEASE AND ITS CARRIERS

Identifieur interne : 006A42 ( Istex/Checkpoint ); précédent : 006A41; suivant : 006A43

HEXOSAMINIDASE A IN TEARS AND SALIVA FOR RAPID IDENTIFICATION OF TAY-SACHS DISEASE AND ITS CARRIERS

Auteurs : Jackd. Singer [Royaume-Uni] ; Edward Cotlier [États-Unis] ; Robert Krimmer [États-Unis]

Source :

The Lancet [ 0140-6736 ] ; 1973.

RBID : ISTEX:F8AC6684F26F83DB480840E2C663FC3D00BFFAEB

English descriptors

Abstract

Abstract: Homozygotes and heterozygotes for the Tay-Sachs gene can be identified by hexosaminidase A determinations of tear fluid collected in filter-paper strips. Total hexosaminidase activity in tears was 4576 ± 665 nmol per ml. per hour, and the A fraction comprised from 38 to 72% of the total. The hexosaminidase A levels in tears are six to ten times higher than in serum. Only Tay-Sachs homozygotes can be identified by hexosaminidase A determinations in saliva. In tears, hexosaminidase A migrates with the α-globulin fraction and is not associated with lysozyme. The simple method of tear collection on filter-paper strips and subsequent storage in screw-cap vials with no loss of hexosaminidase A activity would ease considerably the dispatch of samples from one city to another. The method is of value for screening other inborn errors of metabolism and carriers.

Url:

https://api.istex.fr/document/F8AC6684F26F83DB480840E2C663FC3D00BFFAEB/fulltext/pdf

DOI: 10.1016/S0140-6736(73)90935-5

Affiliations:

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ISTEX:F8AC6684F26F83DB480840E2C663FC3D00BFFAEB

Le document en format XML

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<term>Obligate heterozygotes</term>
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<term>Room temperature</term>
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<term>Saliva samples</term>
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<term>Several days</term>
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<term>Total hexosaminidase</term>
<term>Voltage drop</term>
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<front><div type="abstract" xml:lang="en">Abstract: Homozygotes and heterozygotes for the Tay-Sachs gene can be identified by hexosaminidase A determinations of tear fluid collected in filter-paper strips. Total hexosaminidase activity in tears was 4576 ± 665 nmol per ml. per hour, and the A fraction comprised from 38 to 72% of the total. The hexosaminidase A levels in tears are six to ten times higher than in serum. Only Tay-Sachs homozygotes can be identified by hexosaminidase A determinations in saliva. In tears, hexosaminidase A migrates with the α-globulin fraction and is not associated with lysozyme. The simple method of tear collection on filter-paper strips and subsequent storage in screw-cap vials with no loss of hexosaminidase A activity would ease considerably the dispatch of samples from one city to another. The method is of value for screening other inborn errors of metabolism and carriers.</div>
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HEXOSAMINIDASE A IN TEARS AND SALIVA FOR RAPID IDENTIFICATION OF TAY-SACHS DISEASE AND ITS CARRIERS

HEXOSAMINIDASE A IN TEARS AND SALIVA FOR RAPID IDENTIFICATION OF TAY-SACHS DISEASE AND ITS CARRIERS

Source :

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri