1610例湘潭地区孕妇耳聋基因突变位点筛查及临床意义

Clinical significance and screening of deafness gene mutation sites in 1610 pregnant women from Xiangtan area

目的筛查湘潭地区孕妇耳聋基因常见突变位点,预防先天性聋儿的出生。方法采用北京博奥生物有限公司耳聋基因芯片法,筛查耳聋基因常见9个突变位点;对8位有耳聋家族史孕妇,耳聋基因芯片法未筛检出以上9个位点,再进行Sanger测序验证。结果1610例受检孕妇中,筛查出耳聋基因突变携带者69例,检出率为4.29%;GJB2、SLC26A4、GJB3、mtDNA 12S rRNA基因突变携带者分别为39例、16例、7例、7例,携带率分别为2.42%、0.99%、0.43%、0.43%。其中在8例有耳聋家族史的孕妇中,测序发现mtDNA 12S rRNAc.1438A>G、c.1709G>A、c.7419G>A和c.12338T>C等一些少见突变位点,其中mtDNA 12S rRNAc.1438A>G位点检出率比较高。结论听力正常孕妇存在耳聋基因突变携带,产前进行耳聋基因筛查具有重要临床意义。

Objective To screen common deafness gene mutations in pregnant woman from Xiangtan area and prevent the birth of congenital deaf children. Methods The deafness gene chip method（Beijing Boao Biotechnology Co.,Ltd.）was used to screen 9 common deafness gene mutations. For the 8 pregnant women with deafness family history,the above 9 sites were not screened by deafness gene chip method,and then Sanger sequencing was performed. Results Of the 1 610 pregnant women tested,69 were found to have been screened for deafness gene mutations,and the detection rate was 4.29%. The GJB2,SLC26 A4,GJB3,and mtDNA 12S rRNA gene mutation carriers were 39,16,7 and 7 cases and the carrier rates were 2.42%,0.99%,0.43%,and 0.43%,respectively. Among 8 pregnant women with family history of deafness,mtDNA 12S rRNAc.1438 AG,c.1709 GA,c.7419 GA,and c.12338 TC（rare mutation sites）were found to be mutated. mtDNA 12S rRNAc.1438 AG detection rate is relatively high. Conclusion Pregnant women with normal hearing carry those deaf-gene mutable sites. Prenatal screening for deafness has important clinical significance.