Segregation within a family of two mutant alleles for hexosaminidase A.

Clinical genetics ·Vol. 9 ·No. 5 ·1976-05-00 ·Pages 540-3

Kelly TE, Reynolds LW, O'Brien JS

Abstract

A healthy adult female was found to have low levels of hexosaminidase A in serum, leukocytes and fibroblasts when these were assayed with artificial substrates. Fibroblast assay with GM2 ganglioside gave values consistent with a Tay-Sachs heterozygote. Studies of this non-Jewish family revealed evidence for segregation of two mutant alleles for hexosaminidase A.

MeSH Terms

Adult Alleles Female Fibroblasts/enzymology Heterozygote Hexosaminidases/blood Humans Leukocytes/enzymology Lipidoses/enzymology,genetics Male Mutation Pedigree

Chemicals

Hexosaminidases

Authors & Affiliations

3 authors, click to expand affiliations / ORCID

Kelly T E

Reynolds L W

O'Brien J S

Article Info

Journal

Clinical genetics

Abbr.

Clin Genet

ISSN

0009-9163

DOI

10.1111/j.1399-0004.1976.tb01609.x

Published

1976-05-00

Pages

540-3

Language

English

Region

Denmark

NLM ID

0253664

Subset

External Links

PubMed source DOI: 10.1111/j.1399-0004.1976.tb01609.x View journal details

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Segregation within a family of two mutant alleles for hexosaminidase A.

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