阳泉地区非综合征性耳聋患者常见耳聋基因突变的分析

The mutation analysis of common deafness gene for non-syndromic hearing loss in Yangquan city

目的通过对阳泉市盲聋哑学校69例耳聋患者进行GJB2、PDS及线粒体DNA基因热点突变筛查,分析该地区耳聋的突变分布及分子病因。方法收集山西省阳泉市69例耳聋患者,对所有患者线粒体DNA A1555G/C1494T、GJB2基因、PDS基因第7、8和19外显子进行扩增及测序。结果 69例非综合征性耳聋患者共有60例检测到基因突变,突变率为86.96%(60/69)。57例患者检出GJB2基因突变,检出率达82.61%(57/69),其中c.235del C突变率为10.14%;3例患者有PDS基因突变,分别为c.2168 A>G 1例,IVS7-2 G>A 2例;未检测到线粒体DNA A1555G/C1494T突变。结论山西省阳泉市常见耳聋基因突变以GJB2基因突变率较高,为耳聋的诊断与治疗提供依据。

Objective： To screen the common mutations of GJB2, PDS and mtDNA gene in 69 patients with deafness from Blind deaf-mute school of Yangquan city, investigate mutations and molecular etiopathogenisis of deafness patients. Methods： 69 cases with deafness were collected for this study. The mtDNA A1555G/C1494T, GJB2 gene, and 7th, 8th and 19th exon of PDS gene were amplified and DNA sequencing. Results： 60 cases with gene mutations were founded in 69 patients with deafness, the rate was 86.96% （60/69） . 57 patiens with GJB2 gene mutation were detected, and the rate was 82.61% （57/69） , in which c.235delC mutation rate was 10.14%. PDS gene mutation were detected with c.2168 A〉G 1 cases and IVST-2 G〉A 2 cases. The mtDNAA 1555G/C1494T mutation were not detected. Conclusion： The deaf patients in Yangquan city of Shanxi province were found to have a hi^her frequency of GJB2 gene mutations, and provided a basis for the diagnosis and treatment of deafness.