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Abstract：
OBJECTIVE: Autosomal-recessive nonsyndromic hearing loss (ARNSHL) is a heterogeneous genetic disorder. Mutations in the gap junction protein beta 2 (GJB2) gene, encoding connexin 26, are a significant cause of ARNSHL in different ethnic groups. This study aimed to identify the frequency and type of GJB2 mutations in the Iranian Azeri population.
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.
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.
摘要：
目的：常染色体隐性遗传非综合征性听力损失（ARNSHL）是一种异质性遗传性疾病。缝隙连接蛋白β2（GJB2）基因突变，编码连接蛋白26，是不同种族ARNSHL的重要原因。这项研究旨在确定伊朗阿塞拜疆人群中GJB2突变的频率和类型。
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.
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.
