广西地区民族间新生儿遗传性耳聋基因筛查相关性研究

Newborn Deafness Genetic Screening in Guangxi and Differences among Ethnic Groups

目的探讨广西地区新生儿常见遗传性耳聋易感基因携带情况及民族之间的差异性。方法选取2017年至2019年在广西壮族自治区妇幼保健院新生儿疾病筛查中心接收的39910例新生儿滤纸干血片送深圳华大基因检测中心对4个常见遗传性耳聋基因20个突变位点进行检测。结果39910例新生儿,检出阳性896例,携带率2.245%,其中汉族2.736%、壮族1.533%、瑶族2.211%、苗族2.000%、仫佬族0.690%以及其他民族1.277%(含毛南族、京族、侗族、水族、彝族等);汉族与壮族存在明显差异,汉族高于壮族(c^(2)=59.567,P=0.000),GJB2基因的c.235delC、c.299-300delAT、GJB3基因的c.538C>T、SLC26A4基因的c.919-2A>G突变位点汉族高于壮族(P=0.002),但SLC26A4基因的c.1975G>C检出率壮族略高于汉族。结论在以壮汉混居为主体的广西四个常见遗传性耳聋基因中汉族与壮族存在一定差异,壮族低于汉族呈现出一定的地域与民族人种特点。

Objective To report screening results of common deafness susceptibility genes in newborns in Guangxi area and the differences among ethnic groups.Methods Dry blood specimens on filter paper sheets from 39,910 newborns collected at the Neonatal Disease Screening Center of Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region from 2017 to 2019 were sent to Shenzhen Huada Genetic Testing Center for detection of twenty mutation sites in four common deafness genes.Results Among the 39,910 specimens,896(2.245%)tested positive:2.736%for Han,1.533%for Zhuang,2.211%for Yao,2.000%for Miao,0.690%for Mulao,and 1.277%for all other ethnic groups(including Maonan,Jing,Dong,Shui,Yi,etc.).The positive rate for the Hans was higher than that for the Zhuangs(c^(2)=59.567,P=0.000).Rates of GJB2 gene c.235delC,c.299-300delAT,GJB3 gene c.538C>T and SLC26A4 gene c.919-2A>G mutations were higher in the Hans than in the Zhuangs(P=0.002),but the rate of SLC26A4 gene c.1975G>C mutation was slightly higher in the Zhuangs than in the Hans.Conclusion In Guangxi where Zhuang and Han people live together,the rate of mutations of the four common hereditary deafness genes among the Zhuangs is lower than that among the Hans with unique regional and ethnic characteristics.