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首页> 外文期刊>ORL: Journal for oto-rhino-laryngology and its borderlands >Prelingual Nonsyndromic Hearing Loss in Greece. molecular and clinical findings.
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Prelingual Nonsyndromic Hearing Loss in Greece. molecular and clinical findings.

机译：希腊语前非综合征性听力损失。分子和临床发现。

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Mutations in the gene encoding the gap-junction protein connexin 26 (GJB2) on chromosome 13q11 have been shown as a major contributor to prelingual, sensorineural, nonsyndromic deafness. One specific mutation, 35delG, has accounted for the majority of the mutations detected in the GJB2 gene in Caucasian populations and is one of the most frequent disease mutations identified so far with highest carrier frequency of 3,5% in the Greek population. In a collaboration with the major referral centers for childhood deafness in Greece, patients were examined by an extensive questionnaire to exclude syndromic forms and environmental causes of deafness and by allele-specific PCR for the detection of the 35delG mutation. The 35delG mutation was found in 32.1% of the alleles in 173 unrelated cases of prelingual deafness: 50 homozygotes and 11 heterozygotes. Individuals heterozygous for the 35delG mutation were further analyzed by direct genomic sequencing of the coding region of the GJB2 gene, which revealed R184P and 486insT mutations in single alleles. We conclude that the 35delG GJB2 mutation is responsible for one third of prelingual, sensorineural deafness in Greece, which is higher than the usually quoted 20% for Caucasian populations.
机译：染色体13q11上的间隙连接蛋白连接蛋白26（GJB2）编码基因的突变已被证明是导致舌前，感音神经性，非综合征性耳聋的主要原因。一种特定的突变（35delG）占白种人人群GJB2基因中检测到的大多数突变，并且是迄今为止确定的最常见的疾病突变之一，在希腊人群中携带者频率最高为3.5％。与希腊主要的儿童耳聋转诊中心合作，对患者进行了广泛的问卷调查，以排除症状的形式和耳聋的环境原因，并通过等位基因特异性PCR检测35delG突变。在173例不相关的舌前耳聋病例中，在32.1％的等位基因中发现了35delG突变：50个纯合子和11个杂合子。通过直接基因组测序GJB2基因的编码区，进一步分析了35delG突变的杂合个体，揭示了单个等位基因中的R184P和486insT突变。我们得出的结论是，希腊的35delG GJB2突变是导致舌前，感音神经性耳聋的三分之一，这比白种人通常引用的20％高。

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