Identification of a novel locus for Marie Unna hereditary hypotrichosis to a 17.5 cM interval at 1p21.1-1q21.3.
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.
Yang
Sen
S
Institute of Dermatology and Department of Dermatology at No.1 Hospital, Anhui Medical University, Hefei, China.
Gao
Min
M
Cui
Yong
Y
Yan
Kai-Lin
KL
Ren
Yun-Qing
YQ
Zhang
Guo-Long
GL
Wang
Pei-Guang
PG
Xiao
Feng-Li
FL
Du
Wen-Hui
WH
Liang
Yan-Hua
YH
Sun
Liang-Dan
LD
Xu
Shi-Jie
SJ
Huang
Wei
W
Zhang
Xue-Jun
XJ
D000328:Adult; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D005260:Female; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D007039:Hypotrichosis / Q000235:genetics*