论文部分内容阅读
目的:探讨G JB2基因突变在中国湖北地区非综合征型学语前聋患儿中的突变频率及主要的突变方式。方法:采集中国湖北地区986例非综合征型语前聋患儿血样,应用PCR技术扩增G JB2基因的编码区,PCR产物进行直接测序,运用Chrom as软件进行测序结果分析。结果:986例患儿中共检测到138例发生G JB2基因突变,突变率为14.00%(138/986),其中双等位基因纯合或复合杂合突变率为6.19%(61/986),235delC约占所有突变的77.61%(156/201)。结论:在中国湖北地区非综合征型学语前聋患儿中,235delC是G JB2基因最常见的突变方式,针对该位点的产前基因诊断将是该地区降低语前聋发生的有效手段。
Objective: To investigate the mutation frequency and major mutation patterns of GJB2 gene mutation in nonsyndrotoxic deaf children in Hubei Province of China. Methods: Blood samples were collected from 986 non - syndromic prelingual deaf children in Hubei Province of China. The coding region of GJB2 gene was amplified by PCR. The PCR products were directly sequenced and analyzed by Chrom as software. Results: Of the 986 children, 138 cases were detected GJB2 gene mutation, the mutation rate was 14.00% (138/986). The rate of homozygous or compound heterozygous mutation of double allele was 6.19% (61/986) 235delC accounted for about 77.61% of all mutations (156/201). CONCLUSIONS: 235delC is the most common mutation of GJB2 gene in nonsyndrotoxic deaf children in Hubei Province of China. Prenatal diagnosis of this locus will be an effective means to reduce prelingual deafness in this area .