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Carrier detection in Sandhoff disease.

Abstract：

:Three new cases of Sandhoff disease are reported. One infant was the second affected child in a large family. The parents, who were cousins, were part of a large kindred from an isolated community in northern Saskatchewan. We assayed total and heat-stable hexosaminidases in 38 other members of the kindred and found two distinct cohorts. Sixteen individuals had low total and low heat-stable hexosaminidase and were diagnosed as carriers of Sandhoff disease. The values for the remainder were within normal limits. In a retrospective study of data from more than 14,000 Ashkenazi Jews, who were screened for Tay-Sachs disease, six were identified as Sandhoff carriers. Our data indicate that carrier detection requires measurement of both total and heat-stable enzyme activity.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Lowden JA,Ives EJ,Keene DL,Burton AL,Skomorowski MA,Howard F

subject

Has Abstract

pub_date

1978-01-01 00:00:00

pages

38-45

issue

1

eissn

0002-9297

issn

1537-6605

journal_volume

30

pub_type

杂志文章

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