3122例新生儿耳聋基因筛查结果分析

Analysis of 3122 cases of neonatal deafness gene screening

目的调查了解乌鲁木齐市新生儿耳聋基因的突变类型。方法采集2015年9-10月-2016年8-9月在乌鲁木齐市出生的3122例新生儿足跟血,使用博奥生物公司遗传性耳聋基因芯片检测试剂盒,对中国最常见的4个耳聋基因(GJB2、SLC26A4、12Sr RNA及GJB3)的9个致聋突变位点进行检测。结果 3122例新生儿中,检出111例新生儿携带耳聋基因突变,总突变率为3.56%。其中:男性53例,占47.74%,女性58例,52.25%,男女之间差异无统计学意义(P>0.05),汉族96例,占86.48%,维吾尔族7例,占6.3%,回族8例,占7.2%,其他民族未检出。四个耳聋基因(GJB2、SLC26A4、12Sr RNA及GJB3)突变率分别为1.72%、1.37%、0.19%、0.25%。结论乌鲁木齐市新生儿中,耳聋基因以GJB2基因突变率最高,临床表现为先天性感音神经性耳聋,婴儿出生时就表现为中重度以上耳聋,提示应及早在新生儿中开展耳聋基因筛查,达到早发现、早诊断、早治疗的目的。

Objective： To investigate the mutation types of neonatal deafness genes in Urumqi. Methods： 2016 years 8-9 months 9-10 months of 2015 born in Urumqi city of 3122 cases of neonatal heel blood test kit Boao biotechnology company genetic deafness gene chip, the 4 most common deafness genes on the China （GJB2, SLC26A4, 12SrRNA and GJB3） of the 9 mutation sites were detected and deaf. Results： In 3122 cases of newborns, the detection of neonatal hearing loss gene mutation in 111 cases, the total mutation rate was 3.56%. Among them, male 53 cases, female 58 cases, accounting for 47.74%, 52.25%, there was no significant difference between men and women （P〉0.05） , 96 cases of Han and Uygur accounted for 86.48%, 7 cases, accounting for 6.3%, Hui 8 cases, accounting for 7.2%, other ethnic groups were not detected. The mutation rates of four deafness genes （GJB2, SLC26A4, 12SrRNA and GJB3） were 1.72%, 1.37%, 0.19%, and 0.25%, respectively. Conclusions： In Urumqi City, with deafness gene mutations in the GJB2 gene was the highest, the clinical manifestations of congenital sensorineural deafness, babies born for moderate to severe hearing loss, suggesting that screening for deafness genes early in the newborn, to achieve early discovery, early diagnosis and treatment purposes.