伊朗南部导致听力损失的GJB2基因突变的频谱和频率更新：文献综述
An update of spectrum and frequency of GJB2 mutations causing hearing loss in the south of Iran: A literature review.
作者信息
Koohiyan Mahbobeh, Ahmadi Amirhossein, Koohian Farideh, Aghaei Shahrzad, Amiri Beheshteh, Hashemzadeh-Chaleshtori Morteza
机构信息
Cancer Research Center, Shahrekord University of Medical Sciences, Shahrekord, Iran.
Pharmaceutical Sciences Research Center, Faculty of Pharmacy, Mazandaran University of Medical Sciences, Sari, Iran.
出版信息
Int J Pediatr Otorhinolaryngol. 2019 Apr;119:136-140. doi: 10.1016/j.ijporl.2019.01.036. Epub 2019 Jan 25.
OBJECTIVE
Mutations in the GJB2 gene are a major cause of autosomal recessive non-syndromic HL (ARNSHL) in many populations. Previous studies have estimated the average frequency of GJB2 mutations to be between 16 and 18% in Iran, but would vary among different ethnic groups. Here, we have taken together and reviewed results from our three previous publications and data from search other published mutation reports to provide a comprehensive collection of data for GJB2 mutations and HL in the south of Iran.
METHODS
In all, 447 unrelated families were included and analyzed for the prevalence and type of the GJB2 gene mutations.
RESULTS
Totally, the frequency of GJB2 mutations was found to be 11.5% in the southern provinces studied which is significantly lower than that identified in Northern populations of Iran, and also a southwest to southeast Iranian gradient in the frequency of GJB2 mutations is suggested.
CONCLUSIONS
This study highlights the importance of establishing prevalence, based on the local population for screening and diagnostic programs of live births in Iran.
目的
在许多人群中，GJB2基因突变是常染色体隐性非综合征性听力损失（ARNSHL）的主要原因。此前的研究估计，伊朗GJB2基因突变的平均频率在16%至18%之间，但不同种族群体之间会有所差异。在此，我们汇总并回顾了我们之前三篇出版物的结果以及其他已发表突变报告的搜索数据，以提供伊朗南部GJB2基因突变和听力损失的全面数据收集。
方法
总共纳入了447个无亲缘关系的家庭，并对GJB2基因突变的患病率和类型进行了分析。
结果
在所研究的南部省份中，发现GJB2基因突变的频率为11.5%，这显著低于在伊朗北部人群中确定的频率，并且表明伊朗存在从西南到东南的GJB2基因突变频率梯度。
结论
本研究强调了基于当地人群确定患病率对于伊朗活产筛查和诊断项目的重要性。
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