Genetic inactivation of the alpha-galactosidase locus in carriers of Fabry's disease.

Science (New York, N.Y.) ·Vol. 170 ·No. 3954 ·1970-10-09 ·Pages 180-1

Romeo G, Migeon BR

Abstract

Skin fibroblasts from a patient with Fabry's disease showed deficient activity of alpha-galactosidase. Fibroblasts from his mother and sister had two distinct clonal populations, one with enzymatic activity and the other enzyme deficient. This provides evidence of genetic inactivation at the alpha-galactosidase locus and makes possible the detection of carriers of Fabry's disease even when the enzymatic activity in their leukocytes and uncloned fibroblasts is within the range of controls.

MeSH Terms

Adolescent Amniotic Fluid/cytology Clone Cells Colorimetry Female Fibroblasts/enzymology Galactosidases/metabolism Glycolipids/metabolism Heterozygote Humans In Vitro Techniques Leukocytes/enzymology Lipid Metabolism, Inborn Errors/diagnosis,enzymology Male Molecular Biology Pregnancy Sex Chromosomes Skin/cytology

Chemicals

Glycolipids Galactosidases

Authors & Affiliations

2 authors, click to expand affiliations / ORCID

Romeo G

Migeon B R

Article Info

Journal

Science (New York, N.Y.)

Abbr.

Science

ISSN

0036-8075

DOI

10.1126/science.170.3954.180

Published

1970-10-09

Pages

180-1

Language

English

Region

United States

NLM ID

0404511

Subset

External Links

PubMed source DOI: 10.1126/science.170.3954.180 View journal details

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Genetic inactivation of the alpha-galactosidase locus in carriers of Fabry's disease.

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