Confirmation of linkage of Sjögren-Larsson syndrome to chromosome 17 in families of different ethnic origins.
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Open Access
- 1 March 1996
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 33 (3) , 258-259
Abstract
Linkage analysis in two consanguineous pedigrees of Pakistani and English origin and one further Indian family in which affected subjects have Sjögren-Larsson syndrome (SLS) showed linkage to chromosome 17. Linkage of SLS to D17S783 and D17S805 has been reported in Swedish pedigrees, but since those data were generated from a single ethnic group originating from a common ancestor, there remained the question of whether this disease is genetically heterogeneous. This report confirms the linkage in non-Swedish pedigrees and, therefore, provides evidence to support a single locus for SLS.Keywords
This publication has 7 references indexed in Scilit:
- The Sjögren-Larsson Syndrome gene is close to D17S805 as determined by linkage analysis and allelic associationNature Genetics, 1994
- Sjögren-Larsson syndrome. Deficient activity of the fatty aldehyde dehydrogenase component of fatty alcohol:NAD+ oxidoreductase in cultured fibroblasts.Journal of Clinical Investigation, 1991
- Depletion of Alcohol (Hexanol) Dehydrogenase Activity in the Epidermis and Jejunal Mucosa in Sjögren-Larsson SyndromeJournal of Investigative Dermatology, 1990
- Sjögren-Larsson syndrome: Inherited defect in the fatty alcohol cycleThe Journal of Pediatrics, 1989
- Sjögren‐Larsson syndrome in Sweden: distribution of the geneClinical Genetics, 1989
- Sjögren‐Larsson syndrome in Sweden. A clinical, genetic and epidemiological studyClinical Genetics, 1981
- Oligophrenia in combination with congenital ichthyosis and spastic disorders; a clinical and genetic study.1957