绍兴地区131名耳聋患儿常见致聋基因检测结果分析

目的 通过对耳聋患儿进行常见耳聋基因检测,了解本地区常见遗传性耳聋基因突变谱及突变频率,为遗传性耳聋的远期预防提供科学依据。 方法 2014年1月-2016年12月对2家聋儿康复中心聋儿和经新生儿听力筛查确诊的听力损失患儿共131例,应用飞行时间质谱技术进行4个常见耳聋基因GJB2、线粒体12srRNA、SLC26A4和GJB3检测,检测位点包含以上4个基因的20个热点突变位点。 结果 131例耳聋患儿中检出耳聋基因突变63例,检出率为48.09%,其中纯合突变20例,检出率为15.27%,杂合突变53例,检出率为40.46%。GJB2检出38例,检出率为29.01%,SLC26A4 25例,检出率为19.08%,检出频率最高的是GJB2 235delC位点和SLC26A4的IVS7-2 A>G位点,检出率分别为26.72%和12.98%,未检测出GJB3基因和mt DNA突变。有耳聋家族史患儿中有60.71%检出基因突变,与无耳聋家族史者检出率差异无统计学意义(χ2=0.752,P>0.05)。 结论 本地区耳聋患儿中常见耳聋基因检出率较高,主要为GJB2、SLC26A4基因突变,线粒体12SrRNA突变可能不是本地区耳聋患儿的主要致病基因,通过耳聋基因检测有助于明确耳聋病因,对家庭再生育风险评估具有重要意义。 

The common deafness gene test results analysis of 131 deaf children in Shaoxing area

Objective Through detecting the common deafness genes in patients, we discover the mutation chart of the hereditary deafness gene and the mutation frequency in the region in order to provide scientific evidence for deafness prevention. Methods The 20 spot mutations of the common deafness genes of GJB2, SLC26A4, 12srRNA and GJB3 were detected by using MALDI-TOF-MS technique for 131 patients from 2 deaf children rehabilitation center and out-patients. Results Sixty-three cases were detected with mutation among 131 patients, and the detection rate was 48.09%. Twenty cases were homozygous mutation, and the ratio was 15.27%. 51 cases were heterozygous mutation, and the ratio was 38.93%. Thirty-eight cases were GBJ2 mutation, and the ratio was 29.01%. Twenty-five cases were SLC25A4 mutation, and the ratio was 19.08%. The highest detection frequency spots are GJB2 235delC spot and IVS7-2A>G spot from SLC26A4, and the corresponding detection rates are 26.72% and 12.98%. GJB3 gene and mt DNA mutation were not detected.60.1% patients with family hereditary deafness was detected, and no statistical significance is discovered compared with detecting ratio of patients without family hereditary deafness (χ2=0.752, P>0.05). Conclusion The detection rate of the common deafness genes among the patients is relatively high in this region, and the major mutations are GJB2 and SLC26A4. 12srRNA may not be the major pathogenic genes of deafness in this region. Detecting the deafness genes can help determine the cause of deafness, and has significance on the family re-birth risk analysis.