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Abstract：
Objective The goal of this research was to investigate the gap junction beta 2 ( GJB2 ) gene mutations associated with nonsyndromic hearing loss individuals in North Karnataka, India. Materials and Methods For this study, patients with sensorineural genetic hearing abnormalities and a family history of deafness were included. A total of 35 patients from 20 families have been included in the study. The patient\'s DNA was isolated from peripheral blood samples. The GJB2 gene coding region was analyzed through Sanger sequencing. Results There is no changes in the first exon of the GJB2 gene. Nine different variants were recorded in second exon of the targeted gene. W24X and W77X are two nonsense mutations and three polymorphisms viz. R127H, V153I, and I33T were reported along with four 3\'-UTR variants. A total (9/20) of 45% of families have been identified with mutations in the targeted gene. Conclusion GJB2 mutations were identified in 19 deaf-mute patients (19/35), and 13 patients were homozygous for the mutations identified in our study cohort. In our study, W24X mutation was found to be the pathogenic with a high percentage, prompting further evaluation of the other genes, along with the study of additional genetic or external causes in the families, which is essential.
摘要：
目的本研究的目的是调查与北卡纳塔克邦非综合征性听力损失个体相关的缝隙连接β2（GJB2）基因突变，印度。本研究的材料和方法，包括有感觉神经性遗传性听力异常和耳聋家族史的患者。共有来自20个家庭的35名患者被纳入研究。从外周血样本中分离患者的DNA。通过Sanger测序分析GJB2基因编码区。结果GJB2基因第一外显子无变化。在靶基因的第二外显子中记录了9种不同的变体。W24X和W77X是两个无义突变和三个多态性即。R127H,V153I,报告了I33T和4种3'-UTR变体。总共(9/20)45%的家族已被鉴定为在靶基因中具有突变。结论19例聋哑患者(19/35)发现GJB2基因突变,13例患者在我们的研究队列中发现的突变为纯合子.在我们的研究中,发现W24X突变是高百分比的致病性，促使进一步评估其他基因，随着对家庭中其他遗传或外部原因的研究，这是必不可少的。
