Abstract: Objective To understand the carrying rate and mutation of the gene of neonatal deafness in this area,and to analyze the difference of the gene carrying rate between high risk neonates and normal newborns.Method Application time of flight mass spectrometry,20 hot spot mutations of GJB2,SLC26A4,GJB3,mitochondria 12SrRNA four common deafness susceptibility genes were detected in 2 029 newborns. Results Among 2 029 newborns:400 cases of high risk infants,1 629 cases of normal newborns;101 newborns positive of gene screening:16 cases (4%) were found in high risk infants,and 85 cases (5.22%) were found in normal newborns.59 newborns were found with GJB2 gene mutation(2.91%).28 newborns were found with SLC26A4 gene mutation(1.38%).12 newborns were found with GJB3 gene mutation(0.60%).2 newborns were found with mitochondrial 12SrRNA gene mutation (0.10%). Conclusions Among the newborns without family history of hearing loss in this area,GJB2 and SLC26A4 gene mutation rates are higher,GJB3 and mitochondria 12SrRNA gene mutation are rare.There is no significant difference in the rate of deafness gene carrying rate between high risk neonates and normal neonates.

Key words: newborns, deafness gene, mutation

摘要： 目的 了解本地区新生儿耳聋易感基因的携带率及突变类型,并分析高危新生儿与正常新生儿的耳聋易感基因携带率的差异。方法 应用飞行时间质谱技术,对2 029例新生儿进行GJB2、SLC26A4、GJB3、线粒体12SrRNA 4个常见耳聋易感基因20个热点突变位点的检测。结果 2 029例新生儿中400例高危儿,1 629例正常新生儿,101例基因筛查阳性,高危儿16例(4.00%),新生儿85例(5.22%),其中GJB2 基因突变 59例(2.91%); SLC26A4 基因突变28例(1.38%); GJB3 基因突变12例(0.60%);线粒体12SrRNA 基因突变2例(0.10%)。结论 在本地区没有耳聋家族史的新生儿中,GJB2 和 SLC26A4基因突变率较高,GJB3 基因和线粒体12SrRNA基因突变率较为少见。高危新生儿与正常新生儿的耳聋易感基因携带率差异无统计学意义。

关键词: 新生儿, 耳聋基因, 突变