银川市兴庆区汉、回族新生儿常见耳聋基因突变特点研究

Investigation on the Mutation Characteristics of Common Deafness Genes in Han,Hui Newborns in Xingqing District of Yinchuan City

目的了解银川市兴庆区汉、回族新生儿常见遗传性聋易感基因携带情况,为该地区建立耳聋基因遗传咨询以及耳聋预防体系提供依据。方法以2018年3月~2019年4月兴庆区出生的5579例新生儿为研究对象,其中汉族4712例,回族867例,均采集足跟血,采用晶芯十五项遗传性聋基因检测试剂盒(微阵列芯片法)对4个常见遗传性聋基因GJB2(c.35 del G、c.176 del 16、c.235 del C和c.299_300 del AT)、GJB3(c.538 C>T)、SLC26A4(c.2168 A>G、c.1174 A>T、c.1226 G>A、c.1229 C>T、c.1975 G>C、c.2027 T>A、c.1707+5G>A和c.919-2 A>G)、mtDNA12SrRNA(m.1494 C>T和m.1555 A>G)共15个突复位变位点进行检测。结果5579例新生儿中,共检出耳聋基因携带者255例(4.57%,255/5579),其中汉、回族分别为192例(4.07%,192/4712)、63例(7.27%,63/867),前者低于后者(χ^2=18.69,P=0.001)。汉、回族新生儿检测出GJB2基因突变携带者分别是87例(1.84%)、28例(3.23%),SLC26A4基因突变携带者分别为83例(1.76%)、32例(3.70%),mtDNA12SrRNA基因突变携带者分别为11例(0.23%)、1例(0.12%),GJB3基因突变携带者分别为7例(0.15%)、2例(0.23%)。GJB2、GJB3、SLC26A4以及mtDNA12SrRNA基因突变携带率在两个民族间差异均有统计学意义(P<0.05)。结论银川市回、汉族常见耳聋基因突变谱存在一定差异,回族人群耳聋基因突变呈现地域以及人种特点。

Objective To understand the carrying status of common hereditary deafness genes in Han and hui neonates in Xingqing district of Yinchuan city,and to provide a strong scientific basis for the establishment of deaf genetic counseling and deafness prevention system in the region.Methods A total of 5579 newborns born in Xingqing district from March 2018 to April 2019 were enrolled in the study,including 4712 Han newborns and 867 Hui newborns.The heel blood was collected and 15 genetic deafness related genes detection kit(microarray chip method)were used to detect four common deafness genes GJB2,GJB3,SLC26A4,and mtDNA12SrRNA.Results A total of 255 cases carrying deafness gene mutations were detected among the 5579 newborns,the total positive rate was 4.57%.The deafness gene mutation rate of Hui and Han was 4.07%and 7.27%respectively,the difference was statistically significant.while 87 Han and 28 Hui newborns carried the GJB2 mutations,the mutation frequencies were 1.84%in Han newborns,3.23%in Hui newborns,83 Han and 32 Hui newborns carried SLC26A4 mutations,the mutation frequencies were 1.76%、3.70%,respectively.mtDNA12SrRNA mutations was feand in 11 Han newborn,and 1 Hui newborns.Only 7 Han newborns carried GJB3 mutation,the prevalence of GJB3 in Han newborns was 0.15%,the difference of GJB2,GJB3,SLC26A4,mtDNA12S rRNA gene carrying rate was statistically significant.Conclusion Two national newborn children with certain differences in deafness gene mutation spectrum,the deafness gene mutation in the Hui population presents the regional and ethnic characteristics.The result will provides a theoretical basis for the prevention of deafness in neonates in Yinchuan.