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首页> 外文期刊>Human mutation >Absence of deafness-associated connexin-26 (GJB2) gene mutations in the Omani population.
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Absence of deafness-associated connexin-26 (GJB2) gene mutations in the Omani population.

机译：阿曼人群中不存在耳聋相关的连接蛋白26（GJB2）基因突变。

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We have investigated the prevalence of mutations in the connexin 26 (GJB2) gene in Omani population using both PCR-RFLP and direct DNA sequencing methods. Two common GJB2 gene mutations (35delG and 167delT) were screened in 280 healthy controls and 95 deaf patients using two different PCR-RFLP methods. To investigate other GJB2 mutations, we have amplified and sequenced DNA from 51 unrelated deaf patients and 17 control subjects. None of the samples studied, either by RFLP or sequencing, revealed any deafness-associated mutations in the coding region of the GJB2 gene. These findings disagree with many reports on the GJB2 gene, describing various mutations as the cause of congenital recessive deafness. Although, an amino acid substitution (S86T) was identified by sequencing, we conclude that this change could not be associated with deafness since it was present in all the control and patient samples sequenced.
机译：我们已经使用PCR-RFLP和直接DNA测序方法调查了阿曼人群中连接蛋白26（GJB2）基因突变的患病率。使用两种不同的PCR-RFLP方法，在280名健康对照者和95名聋哑患者中筛选出两个常见的GJB2基因突变（35delG和167delT）。为了调查其他GJB2突变，我们从51位无关的聋哑患者和17位对照受试者中扩增并测序了DNA。通过RFLP或测序研究的样本均未显示GJB2基因编码区与耳聋相关的突变。这些发现与有关GJB2基因的许多报道不同，该报道将各种突变描述为先天性隐性耳聋的原因。尽管通过测序鉴定出了氨基酸取代（S86T），但我们得出结论，这种改变可能与耳聋无关，因为它存在于所有测序的对照和患者样品中。

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