A distinct gene close to the hairless locus on chromosome 8p underlies hereditary Marie Unna type hypotrichosis in a German family

Autor: Martina Anker, Roland Kruse, Guido M. Kukuk, Sven Cichon, Axel M. Hillmer, K. Altland, Markus M. Nöthen, Peter Propping, Michael Knapp
Rok vydání: 2000
Předmět:
Zdroj: British Journal of Dermatology. 143:811-814
ISSN: 0007-0963
DOI: 10.1046/j.1365-2133.2000.03781.x
Popis: BACKGROUND: Hypotrichosis of the Marie Unna type (HMU) is a rare autosomal dominant disorder characterized by male-pattern hair loss with childhood onset and anomalies of the hair shaft. OBJECTIVES: We aimed to evaluate a number of chromosomal loci as possible candidate regions for HMU. METHODS: A linkage analysis was performed in a large German family using microsatellite markers spanning candidate regions on chromosomes 8, 12 and 17. RESULTS: We found that the HMU locus maps to chromosomal region 8p21 in a 13.01-cM interval between markers D8S1145 and D8S1771. This interval harbours the hairless gene (HR). Mutational analysis of HR on the genomic and transcript levels revealed no pathogenic mutation. CONCLUSIONS: Our findings, together with a recent report of two unrelated families of Dutch and British origin, provide evidence for a hair growth regulatory gene distinct from HR in chromosomal region 8p21.
Databáze: OpenAIRE
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