Genetic Basis of Y-Linked Hearing Impairment

被引：28

作者：

Wang, Qiuju ^{[1
,2
]}

Xue, Yali ^{[2
]}

Zhang, Yujun ^{[2
]}

Long, Quan ^{[2
]}

Asan ^{[2
]}

Yang, Fengtang ^{[2
]}

Turner, Daniel J. ^{[2
]}

Fitzgerald, Tomas ^{[2
]}

Ng, Bee Ling ^{[2
]}

Zhao, Yali ^{[1
]}

Chen, Yuan ^{[2
]}

Liu, Qingjie ^{[4
]}

Yang, Weiyan ^{[1
]}

Han, Dongyi ^{[1
]}

Quail, Michael A. ^{[2
]}

Swerdlow, Harold ^{[2
]}

Burton, John ^{[2
]}

Fahey, Ciara ^{[2
]}

Ning, Zemin ^{[2
]}

Hurles, Matthew E. ^{[2
]}

Carter, Nigel P. ^{[2
]}

Yang, Huanming ^{[3
]}

Tyler-Smith, Chris ^{[2
]}

机构：

[1] Chinese Peoples Liberat Army Gen Hosp, Chinese PLA Inst Otolaryngol, Dept Otolaryngol Head & Neck Surg, Beijing 100853, Peoples R China

[2] Wellcome Trust Sanger Inst, Hinxton CB10 1SA, Cambs, England

[3] Beijing Genom Inst Shenzhen, Shenzhen 518000, Peoples R China

[4] Chinese Ctr Dis Control & Prevent, Natl Inst Radiol Protect, Beijing 100088, Peoples R China

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2013年 / 92卷 / 02期

基金：

英国惠康基金;

关键词：

LARGE CHINESE FAMILY; STRUCTURAL VARIATION; CHROMOSOME; LINKAGE; REGION;

D O I：

10.1016/j.ajhg.2012.12.015

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A single Mendelian trait has been mapped to the human Y chromosome: Y-linked hearing impairment. The molecular basis of this disorder is unknown. Here, we report the detailed characterization of the DFNY1 Y chromosome and its comparison with a closely related Y chromosome from an unaffected branch of the family. The DFNY1 chromosome carries a complex rearrangement, including duplication of several noncontiguous segments of the Y chromosome and insertion of similar to 160 kb of DNA from chromosome 1, in the per-centric region of Yp. This segment of chromosome 1 is derived entirely from within a known hearing impairment locus, DFNA49. We suggest that a third copy of one or more genes from the shared segment of chromosome 1 might be responsible for the hearing-loss phenotype.

引用

页码：301 / 306

页数：6

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