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Linkage relationships of the angiokeratoma (Fabry) locus

Linkage relationships of the angiokeratoma (Fabry) locus BY A. W. JOHNSTON,* P. FROST?, G. L. SPAETHS, AND J. H. RENWICKS Angiokeratoma corporis m u s u m (AKCD; Fabry's disease) has recently attracted attention since the recognition that it is a generalized disease with excessive storage of a normal glycolipid, n ceramide trihexoside, detected more particularly in the walls of blood vessels and i the kidneys. The precise enzyme which is deficient may be ceramide trihexosidase. Its virtual absence has been demonstrated in small intestinal mucosa from mares with the disease, with some reduction in the concentration of this enzyme in one carrier female (Brady et al. 1967). The affected men complain of pains in the limbs and show a characteristic rash with dilated small blood vessels and some hyperkeratosis, distributed mainly over the spine, hips and genitalia. The fidl clinical features have been reviewed by Wise, Wallace & Jellinek (1962) and by Johnston, Weller & Warland (1968). LINKAGE A N f i Y S E S Pedigree analysis has favoured an X-borne allele, though some of the carrier females show features of the disease, particularly the corneal dystrophy. Opitz et al. (1965) suggested that the Xg and angiokeratoma, AKCD, loci might be within measurable http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Annals of Human Genetics Wiley

Linkage relationships of the angiokeratoma (Fabry) locus

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References (17)

Publisher
Wiley
Copyright
Copyright © 1969 Wiley Subscription Services, Inc., A Wiley Company
ISSN
0003-4800
eISSN
1469-1809
DOI
10.1111/j.1469-1809.1969.tb00088.x
Publisher site
See Article on Publisher Site

Abstract

BY A. W. JOHNSTON,* P. FROST?, G. L. SPAETHS, AND J. H. RENWICKS Angiokeratoma corporis m u s u m (AKCD; Fabry's disease) has recently attracted attention since the recognition that it is a generalized disease with excessive storage of a normal glycolipid, n ceramide trihexoside, detected more particularly in the walls of blood vessels and i the kidneys. The precise enzyme which is deficient may be ceramide trihexosidase. Its virtual absence has been demonstrated in small intestinal mucosa from mares with the disease, with some reduction in the concentration of this enzyme in one carrier female (Brady et al. 1967). The affected men complain of pains in the limbs and show a characteristic rash with dilated small blood vessels and some hyperkeratosis, distributed mainly over the spine, hips and genitalia. The fidl clinical features have been reviewed by Wise, Wallace & Jellinek (1962) and by Johnston, Weller & Warland (1968). LINKAGE A N f i Y S E S Pedigree analysis has favoured an X-borne allele, though some of the carrier females show features of the disease, particularly the corneal dystrophy. Opitz et al. (1965) suggested that the Xg and angiokeratoma, AKCD, loci might be within measurable

Journal

Annals of Human GeneticsWiley

Published: May 1, 1969

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