Günther Barbara, Steiner Andrea, Nekahm-Heis Doris, Albegger Klaus, Zorowka Patrick, Utermann Gerd, Janecke Andreas
Institute of Medical Biology and Human Genetics, University of Innsbruck, Austria.
Hum Mutat. 2003 Aug;22(2):180. doi: 10.1002/humu.9167.
Recently, a 342-kb deletion involving GJB6 was associated with autosomal-recessive non-syndromic hearing loss (NSHL) and in combination with a GJB2 mutation with digenic NSHL. This deletion was the second most common mutation causing prelingual NSHL in Spain, and was frequently observed in patients from France and Israel. We screened 393 patients with NSHL being negative or heterozygous for GJB2 mutations for this GJB6 deletion using a multiplex PCR. Most patients were of Austrian (84.2%), and the other patients were of Turkish, Serbian, and Bosnian origin. None of these patients was carrying the deletion in GJB6 indicating that the occurrence of this deletion is restricted to certain populations.
最近，一个涉及GJB6的342 kb缺失与常染色体隐性非综合征性听力损失（NSHL）相关，并且与一个GJB2突变共同导致双基因NSHL。该缺失是西班牙导致语前NSHL的第二常见突变，在法国和以色列的患者中也经常观察到。我们使用多重PCR对393例GJB2突变呈阴性或杂合的NSHL患者进行该GJB6缺失的筛查。大多数患者来自奥地利（84.2%），其他患者来自土耳其、塞尔维亚和波斯尼亚。这些患者中没有一个携带GJB6缺失，这表明该缺失的发生仅限于特定人群。
