Literature DB >> 7894487

The Sjögren-Larsson syndrome gene is close to D17S805 as determined by linkage analysis and allelic association.

M Pigg1, S Jagell, A Sillén, J Weissenbach, K H Gustavson, C Wadelius.   

Abstract

Sjögren-Larsson Syndrome (SLS) is characterized by congenital ichthyosis, spastic dior tetraplegia and mental retardation. It is an autosomal recessive trait that is frequent in the northern part of Sweden. Based on linkage analysis and allelic association, the disorder has now been mapped to chromosome 17. Meiotic recombinations suggest that the gene is flanked by D17S805 on the centromeric and D17S783, D17S959, D17S842 and D17S925 on the telomeric side. These markers map to the same location in reference pedigrees. Strong allelic association (chi-square 60.28, p < 0.0003) to D17S805 suggests that the mutation is located close to this marker.

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Year:  1994        PMID: 7894487     DOI: 10.1038/ng1294-361

Source DB:  PubMed          Journal:  Nat Genet        ISSN: 1061-4036            Impact factor:   38.330


  6 in total

1.  Linkage disequilibrium mapping places the gene causing familial Mediterranean fever close to D16S246.

Authors:  E N Levy; Y Shen; A Kupelian; L Kruglyak; I Aksentijevich; E Pras; J E Balow; B Linzer; X Chen; D A Shelton; D Gumucio; M Pras; M Shohat; J I Rotter; N Fischel-Ghodsian; R I Richards; D L Kastner
Journal:  Am J Hum Genet       Date:  1996-03       Impact factor: 11.025

2.  Confirmation of linkage of Sjögren-Larsson syndrome to chromosome 17 in families of different ethnic origins.

Authors:  M Lacour; H R Middleton-Price; J I Harper
Journal:  J Med Genet       Date:  1996-03       Impact factor: 6.318

3.  The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene.

Authors:  W B Rizzo; G Carney; Z Lin
Journal:  Am J Hum Genet       Date:  1999-12       Impact factor: 11.025

4.  Genetic homogeneity in Sjögren-Larsson syndrome: linkage to chromosome 17p in families of different non-Swedish ethnic origins.

Authors:  G R Rogers; W B Rizzo; A Zlotogorski; N Hashem; M Lee; J G Compton; S J Bale
Journal:  Am J Hum Genet       Date:  1995-11       Impact factor: 11.025

5.  The promise of human induced pluripotent stem cells in dental research.

Authors:  Thekkeparambil Chandrabose Srijaya; Padmaja Jayaprasad Pradeep; Rosnah Binti Zain; Sabri Musa; Noor Hayaty Abu Kasim; Vijayendran Govindasamy
Journal:  Stem Cells Int       Date:  2012-05-09       Impact factor: 5.443

Review 6.  Sjogren-Larsson Syndrome: Mechanisms and Management.

Authors:  Parayil Sankaran Bindu
Journal:  Appl Clin Genet       Date:  2020-01-07
  6 in total

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