Mutations of the Coding Region of GJB2 Gene in 43 Cases of Chinese Pa-tients with Non-syndromic Hearing Impairment

doi:10.3785/j.issn.1008-9292.2000.02.003

Journal of ZheJiang University(Medical Science)

2000, Vol. 29

Issue (2): 55-57 DOI: 10.3785/j.issn.1008-9292.2000.02.003

Mutations of the Coding Region of GJB2 Gene in 43 Cases of Chinese Pa-tients with Non-syndromic Hearing Impairment

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Abstract

To examine mutation in the partial coding region of GJB2 gene in 43 cases of Chinese patients with non-syndromic hearing impairment (NSHI). Methods:Genomic DNAs from 43 cases in 2 deafness-mutism schools of Hangzhou and Ningbo,Zhejiang Province,which came from 43 unrelated familes, were extracted and amplified by PCR for a 234 bp coding region of GJB2 gene. The PCR products were applied for single strand conformational polymorphism (SSCP) analysis. Results:At least 10 cases were found to have abnormal shift of bands on SSCP gels with three different patterns. Conclusion :GJB2 gene mutations also exist in Chinese NSHI patients.

Key words： Deafness/genet GJB2 gene Mutation Polymerase chain reaction Silver staining

Published: 25 March 2000

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Cite this article:

. Mutations of the Coding Region of GJB2 Gene in 43 Cases of Chinese Pa-tients with Non-syndromic Hearing Impairment. Journal of ZheJiang University(Medical Science), 2000, 29(2): 55-57.

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https://www.zjujournals.com/med/10.3785/j.issn.1008-9292.2000.02.003 OR https://www.zjujournals.com/med/Y2000/V29/I2/55

43例中国人非综合征性听力减退患者的GJB2基因编码区的突变分析

目的：分析43例中国人非综合征性听力减退(NSHI)患者的GJB2基因部分编码区的突变的情况。方法：采取浙江省杭州市聋哑学校和宁波市鄞县特殊教育学校的43例NSHI患者(分别来自43个独立家系)血样，经聚合酶链反应(PCR)扩增GJB2基因编码区1-234 bp片段，用单链构象多态性(SSCP)分析法进行突变筛选。结果：43例NSHI患者中该片段PCR产物呈异常带型者有10例，且至少有3种不同的异常式样。结论：中国人NSHI患者也存在GJB2基因的突变。

关键词： 聋/遗传学, GJB2基因, 突变, 聚合酶链反应, 银染法

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