A distinct gene close to the hairless locus on chromosome 8p underlies hereditary Marie Unna type hypotrichosis in a German family
✍ Scribed by S. Cichon; R. Kruse; A.M. Hillmer; G. Kukuk; M. Anker; K. Altland; M. Knapp; P. Propping; M.M. Nöthen
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 291 KB
- Volume
- 143
- Category
- Article
- ISSN
- 0007-0963
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✦ Synopsis
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.