浙江省1822例非综合征性感音神经性聋患者GJB2基因突变分析

发布时间：2018-07-31 12:39

【摘要】：目的:研究浙江省人群中非综合征性感音神经性聋患者间隙连接蛋白(GJB2)基因突变的情况,为浙江省GJB2基因突变图谱的绘制及非综合征性感音神经性聋的预防奠定基础。方法:收集浙江省1 822例非综合征性感音神经性聋患者及467例正常对照的血样,对GJB2基因进行聚合酶链反应(PCR)并测序,统计受检者GJB2基因突变情况。结果:1 822例患者中,共检测到30种基因突变,其中明确病理性突变11种,亚效等位基因1种,多态性突变16种,新突变方式2种。病理性突变中,c.235delC突变的检出率(18.50%)及等位基因频率(12.16%)最高,c.299_300delAT、c.176_191del16、c.512_513insAACG、c.35delG、c.283GA、c.427CT、c.35insG、c.439GA、c.571TC、c.139GT突变的检出率及等位基因频率依次降低。结论:c.235delC突变是浙江省非综合征性感音神经性聋患者GJB2基因最常见的突变;移码突变是GJB2基因中较为常见的致病突变类型;新发现的2种突变丰富了GJB2基因突变图谱。
[Abstract]:Objective: to study the mutation of gap junction protein (GJB2) gene in non-syndromic sensorineural hearing loss patients in Zhejiang province, and to lay a foundation for the mapping of GJB2 gene mutation map and the prevention of non-syndromic sensorineural hearing loss. Methods: blood samples of 1 822 non-syndromic sensorineural deafness patients and 467 normal controls were collected. The GJB2 gene was sequenced by polymerase chain reaction (PCR), and the mutation of GJB2 gene was analyzed. Results A total of 30 gene mutations were detected in 1 822 patients, including 11 pathological mutations, 1 subeffector allele, 16 polymorphic mutations and 2 new mutations. In pathological mutation, the detection rate (18.50%) and allele frequency (12.16%) of C235delC mutation were the highest. The frequency of allelic mutation and allele frequency decreased in turn. The frequency of allelic mutation and allele frequency decreased in turn. The highest frequency was c. 299300 delATT c. 176191del16 / c.512513insAACGN c. 35delGnc283GAnc. 427CTCc. 35insGc. 439GAc. 539GAc. 571TCnc. 139GT mutation rate and allele frequency decreased in turn. Conclusion the GJB2 gene mutation is the most common one in non-syndromic sensorineural deafness patients in Zhejiang province, and the frameshift mutation is a common type of pathogenicity mutation in GJB2 gene, and the two new mutations enrich the mutation map of GJB2 gene.
【作者单位】：温州医科大学Attardi线粒体生物医学研究院;温州医科大学仁济学院;浙江大学遗传研究所;
【基金】：国家青年科学基金(No:31401070);国家青年科学基金(No:31100903) 浙江省自然科学基金(No:Y2110399) 温州医学院科研发展基金项目(No:QTJ13017)
【分类号】：R764.43

【相似文献】