Original Article

Subject Category: Genetics

Journal of Investigative Dermatology (2005) 125, 711–714; doi:10.1111/j.0022-202X.2005.23874.x

Identification of a Novel Locus for Marie Unna Hereditary Hypotrichosis to a 17.5 cM Interval at 1p21.1–1q21.3

Sen Yang*,, Min Gao*,, Yong Cui*,, Kai-Lin Yan*,, Yun-Qing Ren*,, Guo-Long Zhang*,, Pei-Guang Wang*,, Feng-Li Xiao*,, Wen-Hui Du*,, Yan-Hua Liang*,, Liang-Dan Sun*,, Shi-Jie Xu, Wei Huang and Xue-Jun Zhang*,

  1. *Institute of Dermatology and Department of Dermatology at No.1 Hospital, Anhui Medical University, Hefei, China;
  2. Key Laboratory of Genome Research at Anhui, Hefei, China;
  3. Chinese National Human Genome Center at Shanghai, Shanghai, China

Correspondence: Xue-Jun Zhang, Institute of Dermatology, Anhui Medical University, 69 Meishan Road, Hefei, Anhui 230032, China. Email: ayzxj@mail.hf.ah.cn

Received 14 April 2005; Revised 22 May 2005; Accepted 26 May 2005.

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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 greater than or equal to3 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.

Keywords:

gene mapping, heterogeneity, Marie Unna hereditary hypotrichosis

Abbreviations:

MUHH, Marie Unna hereditary hypotrichosis

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