Abstract:
: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.
journal_name
Clin Exp Dermatoljournal_title
Clinical and experimental dermatologyauthors
Naeem M,John P,Ali G,Ahmad Wdoi
10.1111/j.1365-2230.2007.02413.xsubject
Has Abstractpub_date
2007-09-01 00:00:00pages
502-5issue
5eissn
0307-6938issn
1365-2230pii
CED2413journal_volume
32pub_type
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