摘要
目的对402例壮族孕期女性进行耳聋基因GJB3、SLC26A4测序,探讨本地区壮族孕期女性GJB3、SLC26A4耳聋基因的突变谱,为产前筛查、产前诊断、新生儿耳聋基因筛查提供遗传咨询。方法收集2017年6~12月来自南宁市妇幼保健院产前门诊听力正常的402例壮族孕期女性,在知情同意下抽取孕妇外周血提取DNA,对耳聋基因GJB3、SLC26A4进行全基因测序。结果GJB3基因检出9个突变位点,其中致病性突变位点两个:c.538C>T和c.547G>A。SLC26A4基因检出33个突变位点,其中致病性突变位点6个,可能良性位点2个,良性位点5个,重要性不明确位点13个,新发现的突变位点7个;SLC26A4基因常见的致病性突变位点是c.1983C>A突变5例,c.1547dup突变5例,c.754T>C突变4例,c.1905G>A突变2例,c.919-2A>G突变2例,c.678T>C突变1例,携带率为4.73%(19/402)。结论南宁市壮族孕期女性GJB3耳聋基因携带率较低,SLC26A4携带率较高,SLC26A4基因常见的致病突变位点为c.1983C>A、c.1547dup、c.754T>C、c.1905G>A、c.919-2A>G和c.678T>C。
Objective To sequence the deafness genes of GJB3 and SLC26A4 for 402 pregnant women of Zhuang nationality,and to investigate their mutation spectrum in this area,so as to provide genetic consultation for prenatal screening,prenatal diagnosis and neonatal deafness gene screening.Methods A total of 402 pregnant women with normal hearing admitted to antenatal clinic of Nanning Maternal and Child Health Hospital from June to December 2017 were collected.With informed consent,their DNAs were extracted from pregnant women's peripheral blood,and the whole genes sequences of deafness genes of GJB3 and SLC26A4 were sequenced.Results There were 9 mutation sites in GJB3 gene,among which two were pathogenic mutation sites.They were c.538C>T and c.547G>A.33 mutation sites were detected in SLC26A4 gene,including 6 pathogenic mutation sites,2 possible benign sites,5 benign sites,13 unclear importance sites and 7 newly discovered mutation sites.Common pathogenic mutation sites of SLC26A4 gene were c.1983C>A mutation in 5 cases,c.1547dup mutation in 5 cases,c.754T>C mutation in 4 cases,c.1905G>A mutation in 2 cases,c.919-2A>G mutation in 2 cases and c.678T>C mutation in 1 case with a carrier rate of 4.73%(19/402).Conclusion The carrier rate of GJB3 deafness gene in pregnant women of Zhuang nationality in Nanning is lower,and that of SLC26A4 is higher.The common mutation sites of SLC26A4 gene are c.1983C>A,c.1547dup,c.754T>C.c1905G>A,c.919-2A>G and c.678T>C.
作者
覃卫娟
李玉蝶
黄娇华
QIN Weijuan;LI Yudie;HUANG Jiaohua(Department of Clinical Laboratory,Nanning Maternity and Child Health Hospital,Guangxi,Nanning 530011,China)
出处
《中国医药科学》
2020年第19期6-10,共5页
China Medicine And Pharmacy
基金
广西壮族自治区卫生和计划生育委员会科研课题(Z20170709)。
