Abstract:
:Hidrotic ectodermal dysplasia (HED), Clouston type, is an autosomal dominant skin disorder which is most common in the French-Canadian population and is characterized by hair defects, nail dystrophy and palmoplantar hyperkeratosis. Biophysical and biochemical studies conducted in HED suggested a molecular abnormality of keratins. We tested eight French-Canadian families segregating HED for linkage to microsatellite markers flanking the known keratin genes and were able to exclude linkage to these loci. Therefore, a genome-wide search for the HED gene was initiated. The first lod score above 3.00 was obtained with the marker D13S175 located in the pericentromeric region of chromosome 13q (Zmax = 8.12 at zero recombination). The cumulative lod scores were above 3.00 for six other markers in the region. A multipoint linkage analysis using the markers D13S175, D13S141 and D13S143 gave a maximum lod score of 11.12 at D13S141 with the one-lod-unit support interval spanning a 12.7 cM region which includes D13S175 and D13S141. Haplotype analysis allowed us to establish D13S143 as the telomeric flanking marker for the HED candidate region.
journal_name
Hum Mol Genetjournal_title
Human molecular geneticsauthors
Kibar Z,Der Kaloustian VM,Brais B,Hani V,Fraser FC,Rouleau GAdoi
10.1093/hmg/5.4.543subject
Has Abstractpub_date
1996-04-01 00:00:00pages
543-7issue
4eissn
0964-6906issn
1460-2083pii
5w0323journal_volume
5pub_type
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journal_title:Human molecular genetics
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