上海市长宁区2 006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

  • 摘要: 目的 分析上海市长宁区2 006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2 006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、299_300delAT), 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 2 006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GJB2 235delC、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。

     

    Abstract: 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(35delG, 176del16, 235delC, 299_300delAT), 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)and mitochondrial 12S 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 SLC26A4 gene heterozygous mutation(the carrying rate was 1.89%), 4 cases of homogeneous or heterogeneous mutation of mitochondrial 12S rRNA gene(the carrier rate was 0.19%), and 6 cases of GJB3 gene heterozygous mutation(the carrier rate was 0.30%). There were 2 cases of double heterozygous mutations, both were GJB2 235delC and SLC26A4 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.

     

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