摘要
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 2 3 4bp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 1 0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。
Objective: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.
出处
《浙江大学学报（医学版）》
CAS
CSCD
2000年第2期55-57,共3页
Journal of Zhejiang University(Medical Sciences)
关键词
非综合征性
听力减退
NSHI
GJB2基因
Deafness/genet
GJB2 gene
Mutation
Polymerase chain reaction
Silver staining
