Pure hair-nail ectodermal dysplasia maps to chromosome 12p11.1-q21.1 in a consanguineous Pakistani family.

Pure hair-nail ectodermal dysplasia maps to chromosome 12p11.1-q21.1 in a consanguineous Pakistani family. Research Abstract Details 

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Pure hair-nail ectodermal dysplasia maps to chromosome 12p11.1-q21.1 in a consanguineous Pakistani family. Abstract Text:

M Naeem,P John,G Ali,W Ahmad,

Ectodermal dysplasias (ED) are developmental disorders affecting tissues of ectodermal origin including hair, nail, teeth and sweat glands. To date, four different types of ectodermal dysplasias involving only hair and nails have been described. In an effort to understand the molecular basis of ED of hair and nails, a Pakistani family with multiple affected individuals was studied. Linkage analysis was carried out by genotyping eight members of the family (five normal and three affected) using microsatellite markers linked to the related phenotype. The diseased phenotype was mapped to chromosome 12p11.1-q21.1 (Zmax=3.1). DNA sequence analysis of the coding exons and splice sites of six hair keratin genes, located in the linkage interval, failed to detect any pathogenic mutation in the affected individuals of the family. Failure to detect a mutation in the epithelial keratin genes suggests that the mutation lies either in the regulatory region of one of the keratin genes or in another unknown gene, located in the linkage interval, with a possible role in the development of ectodermal appendages.

Pure hair-nail ectodermal dysplasia maps to chromosome 12p11.1-q21.1 in a consanguineous Pakistani family. Publishing Authors By Initials

M Naeem,P John,G Ali,W Ahmad,

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Pure hair-nail ectodermal dysplasia maps to chromosome 12p11.1-q21.1 in a consanguineous Pakistani family. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Clinical and experimental dermatology

VOLUME: 32

Page Numbers: 502-5

Journal Abbreviation: Clin. Exp. Dermatol.

ISSN: 0307-6938

DAY: 8

MONTH: 05

YEAR: 2007

Pure hair-nail ectodermal dysplasia maps to chromosome 12p11.1-q21.1 in a consanguineous Pakistani family. Information

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LANGUAGE: eng

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AFFILIATION: Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.

Country: England

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MEDLINETA: Clin Exp Dermatol

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