Evirgen Neslihan, Solak Mustafa, Dereköy Sefa, Erdoğan Müjgan, Yildiz Handan, Eser Betül, Arikan Suna, Erkoç Arzu
Department of Medical Biology, Medical Faculty, Afyonkarahisar Kocatepe University, Afyonkarahisar, Turkey.
Genet Test. 2008 Jun;12(2):253-6. doi: 10.1089/gte.2007.0106.
Hearing loss is the most frequent sensory defect in human being. The 13q11-q12 region contains the GJB2 and GJB6 genes, which code connexin 26 (CX26) and connexin 30 (CX30) proteins, respectively. The 35delG, 167delT, and 235delC mutations in the Cx26 gene are the main cause for sporadic nonsyndromic hearing loss (NSHL) in many populations. The 342-kb deletion [del(GJB6-D13S1830)] of the Cx30 gene is the second most common connexin mutation after the 35delG mutation in some NSHL populations. In our study 47 hearing-impaired students were included. The Cx26 gene and the Cx30 gene were analyzed for presence of the 35delG, 167delT, and 342-kb deletion [del(GJB6-D13S1830)]. Genotyping were performed for detecting 35delG, 167delT, and del(GJB6-D13S1830) mutations using the PCR-ELISA techniques. According to the results obtained from 47 cases, the 35delG mutation was detected in 7 cases ( approximately 14.9%). Four of these mutations were determined as homozygote mutant ( approximately 8.5%), and three were determined as heterozygote mutant ( approximately 6.4%). However, 167delT and del(GJB6-D13S1830) mutations were not detected in the study group. These results support the overwhelming majority of 35delG in our study group from deafness school in our study. In conclusion, the 35delG mutation was determined as the most frequently shown mutation that leads to congenital hearing loss as in previous studies from Turkey.
听力损失是人类最常见的感觉缺陷。13q11-q12区域包含GJB2和GJB6基因，它们分别编码连接蛋白26（CX26）和连接蛋白30（CX30）。Cx26基因中的35delG、167delT和235delC突变是许多人群散发性非综合征性听力损失（NSHL）的主要原因。在一些NSHL人群中，Cx30基因的342 kb缺失[del(GJB6-D13S1830)]是仅次于35delG突变的第二常见连接蛋白突变。我们的研究纳入了47名听力受损学生。分析Cx26基因和Cx30基因是否存在35delG、167delT和342 kb缺失[del(GJB6-D13S1830)]。采用PCR-ELISA技术进行基因分型以检测35delG、167delT和del(GJB6-D13S1830)突变。根据47例患者的结果，在7例患者中检测到35delG突变（约14.9%）。其中4个突变被确定为纯合子突变（约8.5%），3个被确定为杂合子突变（约6.4%）。然而，在研究组中未检测到167delT和del(GJB6-D13S1830)突变。这些结果支持了我们研究中来自聋哑学校的研究组中绝大多数为35delG突变。总之，正如土耳其先前的研究一样，35delG突变被确定为导致先天性听力损失最常见的突变。
