上海市长宁区2006例新生儿15个遗传性耳聋基因突变位点的筛查分析

Screening of 15 gene mutation sites of hereditary deafness in 2 006 neonates in Changning District of Shanghai City

目的分析上海市长宁区2006例新生儿耳聋常见的4个基因的15个位点的筛查结果。方法采用15项遗传性耳聋相关基因检测试剂盒(微阵列芯片法)对2006例新生儿进行4个常见耳聋相关基因的15个突变位点的检测,包括GJB2(35delG、176del16、235delC、299300delAT),GJB3(538 C>T),SLC26A4(IVS7-2 A>G、2168 A>G,1174 A>T、1226 G>A、1229 C>T、IVS15+5 G>A、1975 G>C、2027 T>A)、线粒体12S rRNA(1555 A>G、1494 C>T)。结果2006例血样中,耳聋基因中单基因单杂合突变者88例,携带率为4.39%,其中包括GJB2基因杂合突变40例(携带率为1.99%),SLC26A4基因杂合突变38例(携带率为1.89%),线粒体12S rRNA基因均质或异质突变4例(携带率为0.19%),GJB3基因杂合突变6例(携带率为0.30%)。另有双杂合突变2例,均为GJB2235delC、SLC26A4 IVS7-2A>G双杂合突变。结论先天性耳聋基因筛查有助于了解耳聋基因突变热点情况,有利于开展早期诊断和早期医学干预,降低耳聋发病率。

Objective To analyze the screening results of 15 sites of 4 common genes in 2 006 newborns with deafness in Changning District of Shanghai City. Methods The 15 genetic deafness related gene detection kits( microarray chip method) were used to detect 15 mutation sites of 4 common deafness-related genes in 2 006 newborns,including GJB2( 35 delG,176 del16,235 delC,299300 delAT),GJB3( 538 C > T),SLC26 A4( IVS7-2 A > G,2168 A > G,1174 A > T,1226 G > A,1229 C > T,IVS15 + 5 G > A,1975 G > C,2027 T > A) and mitochondrial 12 S rRNA( 1555 A > G,1494 C > T).Results Among the 2 006 blood samples,88 cases were found to have single gene single heterozygous mutations,with a carrier rate of 4. 39%,including 40 cases of GJB2 gene heterozygous mutation( the carrier rate was 1. 99%),38 cases of SLC26 A4 gene heterozygous mutation( the carrying rate was1. 89%),4 cases of homogeneous or heterogeneous mutation of mitochondrial 12 S rRNA gene( the carrier rate was 0. 19%),and 6 cases of GJB3 gene heterozygous mutation( the carrier rate was0. 30%). There were 2 cases of double heterozygous mutations,both were GJB2 235 delC and SLC26 A4 IVS7-2 A > G double heterozygous mutations. Conclusion Genetic screening for congenital deafness helps to understand the hot spots of deafness gene mutation,and is conducive to implementations of early diagnosis and early medical intervention,and reduce the incidence rate of deafness.