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The gene for Darier's disease maps to chromosome 12q23-q24.1

Craddock, Nicholas John, Dawson, Elisabeth, Burge, Susan, Parfitt, Liz, Mant, Becky, Roberts, Queta, Daniels, Jo, Gill, Mike, McGuffin, Peter, Powell, John and Owen, Michael John 1993. The gene for Darier's disease maps to chromosome 12q23-q24.1. Human Molecular Genetics 2 (11) , pp. 1941-1943. 10.1093/hmg/2.11.1941

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Abstract

Darier's disease is a rare autosomal dominant skin disorder in which there is abnormal adhesion between keratinocytes. It appears to be associated with an increased prevalence of neuropsychiatric disorders including mental retardation and epilepsy. In addition we have previously reported a family in which major affective disorder cosegregates with Darier's disease. In the present study we have localized the gene for Darier's disease to chromosome 12q23-q24.1 by linkage analysis in five British pedigrees. We obtained a maximum two point lod score of 4.29 with marker D12S84 at zero recombination fraction. All five families showed evidence of linkage between the disease gene and markers in this region. Subsequent identification of the Darier's disease gene will provide insights into normal mechanisms of cell adhesion and may be of importance in the genetic investigation of neuropsychiatric disorders as well as elucidating the pathogenesis of Darier's disease itself.

Item Type: Article
Date Type: Publication
Status: Published
Schools: MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Medicine
Neuroscience and Mental Health Research Institute (NMHRI)
Subjects: R Medicine > R Medicine (General)
R Medicine > RZ Other systems of medicine
Publisher: Oxford University Press
ISSN: 0964-6906
Last Modified: 17 Apr 2019 20:59
URI: http://orca.cf.ac.uk/id/eprint/63523

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