title: Identification of a novel locus for Marie Unna hereditary hypotrichosis to a 17.5 cM interval at 1p21.1-1q21.3.
abstract: Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal dominant disorder characterized by coarse, wiry, twisted hair developed in early childhood and followed by the development of alopecia. A locus for this disorder was localized to chromosome 8p, but no gene responsible for it has been identified. To map and determine whether MUHH is a genetically heterogeneous disorder and identify the disease gene locus in a four-generation Chinese family with MUHH. We performed a genome-wide scan in this family. Two-point linkage analysis was performed using Linkage programs version 5.10 software and haplotype was constructed with Cyrillic Version 2.02 software. We failed to confirm the previous locus for MUHH at chromosome 8p and obtained the conformed evidence for linkage at chromosome 1. Two-point logarithm of odds ratio scores > or =3 were observed at markers D1S2746 and D1S2881. Haplotype analysis localized this locus to a 42 Mb region. The previous results and this study have shown that MUHH is a genetically heterogeneous disorder. Our family was mapped to a 17.5 cM region between markers D1S248 and D1S2345.
authors.affiliation: Institute of Dermatology and Department of Dermatology at No.1 Hospital, Anhui Medical University, Hefei, China.
authors.forename: Sen
authors.initials: S
authors.lastname: Yang
authors.forename: Min
authors.initials: M
authors.lastname: Gao
authors.forename: Yong
authors.initials: Y
authors.lastname: Cui
authors.forename: Kai-Lin
authors.initials: KL
authors.lastname: Yan
authors.forename: Yun-Qing
authors.initials: YQ
authors.lastname: Ren
authors.forename: Guo-Long
authors.initials: GL
authors.lastname: Zhang
authors.forename: Pei-Guang
authors.initials: PG
authors.lastname: Wang
authors.forename: Feng-Li
authors.initials: FL
authors.lastname: Xiao
authors.forename: Wen-Hui
authors.initials: WH
authors.lastname: Du
authors.forename: Yan-Hua
authors.initials: YH
authors.lastname: Liang
authors.forename: Liang-Dan
authors.initials: LD
authors.lastname: Sun
authors.forename: Shi-Jie
authors.initials: SJ
authors.lastname: Xu
authors.forename: Wei
authors.initials: W
authors.lastname: Huang
authors.forename: Xue-Jun
authors.initials: XJ
authors.lastname: Zhang
mesh_terms: D000328:Adult; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D005260:Female; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D007039:Hypotrichosis / Q000235:genetics*