先天性耳聋患儿76例耳聋基因突变筛查结果研究

Genetic mutation screening of deafness in children with congenital deafness:a study of 76 cases

目的:分析先天性耳聋患儿76例耳聋基因携带情况。方法:收治先天性耳聋患儿76例,对其采用基质辅助激光解吸/离子化飞行时间质谱技术检测SLC26A4、GJB2、GJB3、线粒体12Sr RNA 4个常见遗传性耳聋基因(共20个位点)的突变情况。结果:经飞行质谱检测,耳聋相关基因突变18例,检出率23.68%。其中GJB2基因突变9例(11.84%),SLC26A4基因突变6例(7.89%),SLC26A4、GJB2、GJB3复合突变3例(3.94%)。结论:先天性耳聋基因突变检出率较高,GJB2基因纯合率最高,SLC26A4基因突变次之。先天性耳聋基因的突变检测为减少出生缺陷患儿提供了依据,应重视先天性耳聋基因的基因学检测。

Objective：To analyze the situation of deafness gene carrying in 76 children with congenital deafness.Methods：76 children with congenital deafness were selected.We used matrix assisted laser desorption/ionization time of flight mass spectrometry to detect mutations in 4 common genetic deafness genes（20 loci）of SLC26 A4,GJB2,GJB3 and mitochondrial12 Sr RNA.Results：18 cases of deafness related gene mutation were detected by flight mass spectrometry,and the detection rate was23.68%.Among them,9 cases（11.84%）of GJB2 gene mutation,6 cases of SLC26 A4 gene mutation（7.89%）,3 cases of SLC26 A4,GJB2,GJB3 compound mutation（3.94%）were found.Conclusion：The detection rate of congenital deafness gene mutation is high.The homozygote rate of GJB2 gene is the highest,and the mutation of SLC26 A4 gene is the second,congenital deafness gene mutation detection to provide a basis for reducing birth defects in children.We should pay attention to children＇s congenital genetic testing gene.