Koohiyan Mahbobeh
Cancer Research Center, Shahrekord University of Medical Sciences, Shahrekord, Iran,
Audiol Neurootol. 2019;24(4):161-165. doi: 10.1159/000502201. Epub 2019 Sep 5.
Mutations in the GJB2 gene are a major cause of hearing loss in many populations. A single mutation of this gene (c.35delG) accounts for approximately 70% of mutations in Caucasians with a carrier frequency of 2-4% in Europe. This study aims to determine the rate of c.35delG carrier frequency in the Middle East.
A systematic literature review of the PubMed, Google Scholar, Web of Science, and Science Direct databases was conducted for articles published before March 2019. The primary data of eligible studies including the number of samples, carrier frequency and so on were extracted.
Fourteen studies that involved 5,200 random controls from 15 populations of the Middle East were included and analyzed for the carrier frequency. The overall c.35delG carrier frequency was found to be 1.38% in the studied populations which is significantly lower than that identified in European populations, and also a west-to-east Middle Eastern gradient in the carrier frequency of c.35delG is suggested.
This study shows the importance of establishing prevalence, based on the local population, for screening and diagnostic programs of live births.
GJB2基因突变是许多人群听力损失的主要原因。该基因的单一突变（c.35delG）在欧洲白种人中约占突变的70%，携带者频率为2%-4%。本研究旨在确定中东地区c.35delG携带者频率。
对PubMed、谷歌学术、科学网和科学直投数据库进行系统文献综述，检索2019年3月之前发表的文章。提取符合条件研究的原始数据，包括样本数量、携带者频率等。
纳入了涉及中东15个人群5200名随机对照的14项研究，并对携带者频率进行了分析。在所研究人群中，c.35delG总体携带者频率为1.38%，显著低于欧洲人群，且提示中东地区c.35delG携带者频率存在从西到东的梯度变化。
本研究表明，基于当地人群确定患病率对于活产筛查和诊断项目具有重要意义。
