1996/04/01 by Zoha Kibar · 70 citations
Biochemistry, Genetics and Molecular Biology · #Skin and Cellular Biology Research #RNA regulation and disease #Connexins and lens biology #Biology #Genetics #Genetic linkage #Haplotype #Gene mapping #Microsatellite #Genetic marker #Population #Chromosome #Candidate gene #Gene #Genotype #Allele
paper · doi:10.1093/hmg/5.4.543
published in Human Molecular Genetics 5(4), 543-547 (Oxford University Press)
openalex publication_date 1996/04/01 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/22
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.