Hyperplasias, Aplasias, Dysplasias, and Atrophies

Kaloustian, Vazken M. Der; Kurban, Amal K.

doi:10.1007/978-3-642-67152-4_5

Cited by 4 publications

(1 citation statement)

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“…The main features of HED are nail deformities frequently associated with paronychial infections, hair defects that range from brittleness and slow growth rate to partial or total alopecia, and thickening of the skin of the palms and soles that occurs in varying degrees of severity. 10 Using linkage analysis in eight French Canadian families segregating HED, the HED gene was mapped to the pericentromeric region of chromosome 13q with a two-point lod score of 8.12 at zero recombination from the marker D13S175. Haplotype analysis in this study placed the HED gene in a region spanning at least 15 cM between the centromere and the marker D13S143.…”

Section: Introductionmentioning

confidence: 99%

Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping

et al. 2000

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HED is an autosomal dominant skin disorder that is particularly common in the French Canadian population of south-west Quebec. We previously mapped the HED gene to the pericentromeric region of chromosome 13q using linkage analysis in eight French Canadian families. In this study, we extend our genetic analysis to include a multiethnic group of 29 families with 10 polymorphic markers spanning 5.1 cM in the candidate region. Two-point linkage analysis strongly suggests absence of genetic heterogeneity in HED in four families of French, Spanish, African and Malaysian origins. Multipoint linkage analysis in all 29 families generated a peak lod score of 53.5 at D13S1835 with a 1 lod unit support interval spanning 1.8 cM. Recombination mapping placed the HED gene in a 2.4 cM region flanked by D13S1828 proximally and D13S1830 distally. We next show evidence for a strong founder effect in families of French Canadian origin thereby representing the first example of a founder disease in the south-west part of the province of Quebec. Significant association was found between HED in these families and all markers analysed (Fisher's exact test, P < 0.001). Complete allelic association was detected at D13S1828, D13S1827, D13S1835, D13S141 and D13S175 (P excess = 1) spanning 1.3 cM. A major haplotype including all 10 associated alleles was present on 65% of affected chromosomes. This haplotype most likely represents the founder haplotype that introduced the HED mutation into the French Canadian population. Luria-Delbrück equations and multipoint likelihood linkage disequilibrium analysis positioned the gene at the D13S1828 locus (likely range estimate: 1.75 cM) and 0.58 cM telomeric to this marker (support interval: 3.27 cM) respectively.

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Section: Introductionmentioning

confidence: 99%