大理地区2102例孕妇常见遗传性聋基因筛查结果分析

The analysis of gene screening results for common hereditary hearing loss in 2 102 pregnant women in Dali area

目的:通过对大理地区孕17周以内的孕妇开展遗传性聋基因检测,强调孕期基因检测和遗传咨询的重要性。方法:通过PCR扩增技术,对GJB2、GJB3、SLC26A4和mtDNA等4个耳聋基因的21个突变位点进行检测,并对阳性样本的阳性率、突变率和民族分布进行统计描述性分析。结果:GJB2和SLC26A4基因的阳性率为1.24%和1.43%,在阳性样本中突变率分别占40.62%和46.88%,GJB3基因的阳性率为0.19%,mtDNA突变基因占0.14%,且全部为mtDNA(Heterozygous),双阳多基因突变型GJB2/SLC26A4仅为1例,阳性率为0.05%,GJB2 c.235delC位点携带频率最高,占GJB2突变基因的65.38%,占突变基因样本26.56%。结论:GJB2和SLC26A4为最常见的耳聋基因,且GJB2 c.235delC位点最常见,确认耳聋突变位点有助于防止遗传性耳聋儿童出生,基因诊断、遗传咨询和适当的干预对于缓解先天性问题是至关重要的。

Objective:By conducting genetic testing of hereditary hearing loss in pregnant women within 17 weeks of gestation in Dali areas,the importance of genetic testing and genetic counseling during pregnancy was emphasized.Methods:Twenty-one mutation sites of 4 hearing loss genes,including GJB2,GJB3,SLC26A4 and mtDNA,were detected by PCR amplification technology.The positive ratio,mutation ratio and ethnic distribution of positive samples were statistically described.Results:The positive ratios of GJB2 and SLC26A4 genes were 1.24% and 1.43%,respectively,with mutation rates of 40.62% and 46.88% in the positive samples,respectively.The positive ratio of GJB3gene was 0.19%,and mtDNA mutation genes accounted for 0.14%,and all of them were mtDNA(Heterozygous).There was only one case of GJB2/SLC26A4 double positive multi-gene mutation,with a positive ratio of 0.05%.The frequency of GJB2 c.235delC site was the highest,accounting for 65.38% of GJB2 mutation genes and 26.56% of mutation gene samples.Conclusion:GJB2 and SLC26A4 are the most common genes of hearing loss,and GJB2 c.235delC site is the most common mutation site.Identifying the hearing loss mutation site is of great importance to prevent the birth of hereditary hearing loss children,and genetic diagnosis,genetic counseling,and appropriate intervention are crucial to alleviate congenital problems.