METHODS: Fifty unrelated families presenting ARNSHL in Ardabil Province, the northwest of Iran, were studied to determine the frequency and type of GJB2 mutations leading to ARNSHL. ARMS-PCR screened all DNA samples to detect c.35delG; p. Gly12Val mutation. In addition, normal samples for c.35delG; p. Gly12Val were analyzed by direct sequencing for other GJB2 mutations.
RESULTS: Of the fifty families, 13 (26%) showed a GJB2 gene mutation, with c.35delG; p. Gly12Val mutation was the most prevalent one that occurred in eight (61.5%) out of the 13 families. Of the families, two were homozygous for c.358-360delGAC; p. Glu120del mutation, and one was homozygous for c.290dupA; p. Tyr97Ter and c.299-300delAT; p. His100Arg mutations. Also, we detected a novel mutation, c.238C>A; p. Gln80lys, in one of the families.
CONCLUSIONS: Our findings are comparable to previous studies, indicating c.35d3lG; p. Gly12Val mutation in the GJB2 gene is the most common cause of GJB2-related hearing loss in the Iranian Azeri population. Furthermore, our study highlights the significance of ARNSHL screening programs of live births based on local population data in Iran.
方法:在Ardabil省出现ARNSHL的50个无关家庭,伊朗西北部,进行了研究,以确定导致ARNSHL的GJB2突变的频率和类型。ARMS-PCR筛选所有DNA样品以检测c.35delG;p.Gly12Val突变。此外,c.35delG的正常样品;p.Gly12Val通过直接测序分析其他GJB2突变。
结果:在50个家庭中,13例(26%)出现GJB2基因突变,c.35delG;p。Gly12Val突变是13个家族中8个(61.5%)中最普遍的突变。在这些家庭中,两个是纯合的c.358-360delGAC;p.Glu120del突变,一个是纯合的c.290dupA;p.Tyr97Ter和c.299-300delAT;p.His100Arg突变。此外,我们发现了一个新的突变,c.238C>A;p.Gln80lys,在其中一个家庭。
结论:我们的发现与以前的研究相当,表明c.35d3lG;p。GJB2基因中的Gly12Val突变是伊朗阿塞拜疆人群中GJB2相关听力损失的最常见原因。此外,我们的研究强调了基于伊朗当地人口数据的ARNSHL活产筛查计划的重要性.