| 耳聋基因GJB2的突变分析及其与临床相关性的研究 |
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| 引用本文： | 王玮,段程颖,汪宪平,丁洁,王挺,顾斌,李红.耳聋基因GJB2的突变分析及其与临床相关性的研究[J].复旦学报(自然科学版),2009,48(1). |
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| 作者姓名： | 王玮 段程颖 汪宪平 丁洁 王挺 顾斌 李红 |
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| 作者单位： | 南京医科大学附属苏州医院苏州市立医院生殖与遗传中心,苏州,215002
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| 基金项目： | 江苏省135重点人才培养基金，苏州市科技计划SS0522资助项目 |
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| 摘 要： | 为了研究苏州地区耳聋人群中GJB2基因突变的频率、突变类型及这些突变与耳聋发生的相关性,收集苏州地区散发性耳聋患者样本106例,家系32个(父母和患儿),听力正常对照组样本100例,PCR-直接测序法分析GJB2基因的突变,PCR-RFLP方法对明确有235delC突变的家系作进一步分析.结果显示:106例散发性耳聋患者中发现了11种变异,235delC是最主要的突变,其中18例为235delC纯合性缺失.235delC纯合突变导致常染色体隐性遗传性耳聋,患者多为双耳重深度耳聋(双耳大于90 dB),发病年龄早;235delc和其他位于不同染色体上的突变形成双重杂合性突变时,也可以导致耳聋.PCR-RFLP方法可在明确235delC突变的患者家系中进行基因诊断.
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| 关 键 词： | 耳聋 基因突变 苏州 |
Analysis on Mutation of the Deafness Gene GJB2 and Clinical Application |
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| WANG Wei,DUAN Chen-ying,WANG Xian-ping,DING Jie,WANG Ting,GU Bin,LI Hong.Analysis on Mutation of the Deafness Gene GJB2 and Clinical Application[J].Journal of Fudan University(Natural Science),2009,48(1). |
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| Authors: | WANG Wei DUAN Chen-ying WANG Xian-ping DING Jie WANG Ting GU Bin LI Hong |
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| Institution: | Center for Reproduction and Genetics;Nan Jing Medical University Affiliated Suzhou Hospital;Suzhou Municipal Hospital;Suzhou 215002;China |
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| Abstract: | To analyze the mutation frequency and genotype of GJB2 gene in deaf people in Suzhou,and the relativity between these mutations and the occurrence of hearing loss,blood samples from 106 sporadic deaf patients(including 32 families with deaf child) and 100 normal people for control were collected.The GJB2 gene was amplified from each DNA sample extracted by PCR,and the PCR product was sequenced afterward.The families with the mutation 235delC were analyzed by PCR-RFLP further.11 mutations were detected in th... |
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| Keywords: | GJB2 235delC |
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