A new locus for hereditary hypotrichosis simplex maps to chromosome 13q12.12 similar to 12.3 in a Chinese family

作者

Xu, C;Zhang, L;Chen, N;Su, B;Pan, CM;Li, JY;Zhang, GW;Liu, Z;Sheng, Y;Song, HD

作者单位

[Xu, Chao; Su, Bin; Pan, Cun-Ming; Zhang, Guo-Wei; Liu, Zhi; Sheng, Yan; Song, Huai-Dong] Shanghai Jiao Tong Univ, State Key Lab Med Genom, Ctr Mol Med, Ruijin Hosp,Med Sch, Shanghai 200025, Peoples R China.;-;[Xu, Chao] Qingdao Univ, Weihai Hosp, Coll Med, Weihai 264200, Peoples R China.;-;[Zhang, Li; Chen, Nan; Li, Jun-Yan] Shandong Univ, Dept Dermatol, Prov Hosp, Jinan 250021, Peoples R China.

摘要

Aim: To identify the disease-causing gene for a four-generation Chinese family with dominant transmission of a form of HHS. The work was carried out at State Key Laboratory of Medical Genomics.;-;Methods: Genome-wide screening was carried out in a Chinese family with HHS using microsatellite markers, and linkage analysis was performed using the MLINK program.;-;Results: The highest two-point logarithm of the odds (LOD) score was obtained with the microsatellite marker D13S217 (LOD score of 4.041 at theta = 0.00). After fine mapping and haplotype analysis, we defined a critical region of about 9.57 cM flanked by markers D13S1243 and D13S1299. The disease-causing gene was mapped to 13q12.12 similar to 12.3 in this family.;-;Conclusions: A novel locus for HHS maps to chromosome 13q12.12 similar to 12.3 in a Chinese family.;-;Xu C, Zhang L, Chen N, Su B, Pan C-M, Li J-Y, Zhang G-W, Liu Z, Sheng Y, Song H-D. A new locus for hereditary hypotrichosis simplex maps to chromosome 13q12.12 similar to 12.3 in a Chinese family.

关键词

SCALP

基本信息

所属机构:

归属医师: 张莉陈楠

PMID：19751230

UT：000277915700010

刊名:JOURNAL OF CUTANEOUS PATHOLOGY

年，卷(期):2010年37卷7期

页码：758-763

DOI：10.1111/j.1600-0560.2009.01415.x

附件：

收录: SCIE