Objective:To determine whether a new-born child from a family carrying a deafness gene needs cochlear implantation to avoid dysphonia by screening and sequencing a deafness-related gene.Results:Both screening and sequ...Objective:To determine whether a new-born child from a family carrying a deafness gene needs cochlear implantation to avoid dysphonia by screening and sequencing a deafness-related gene.Results:Both screening and sequencing results confirmed that the new born child had a normal GJB2 gene despite the fact that she has a brother suffering from hearing loss triggered by an allelic GJB2 c.176 del 16 mutation.We cloned the GJB2 genes derived from their respective blood genomic DNA into GFP fused plasmids and transfected those plasmids into the 293 T cell line to test for gene function.While the mutated GJB2gene(GJB2 c.176 del 16) of her deaf brother was found to be unable to form the gap junction structure between two adjacent cells,the baby girl’s GJB2 gene ran into no such problems.Conclusion:The screening and sequencing as well as the GJB2 gene function tests invariably showed results consistent with the ABR tested hearing phenotype,which means that the child,with a normal wild type GJB2 gene,does not need early intervention to prevent her from developing hearing loss and dysphonia at a later stage in life.展开更多
目的探讨新生儿听力和聋病易感基因联合筛查的临床意义。方法选择2014年1~l2月出生后42d进行听力复查的957例新生儿,听力复筛采用畸变产物耳声发射(DPOAE)结合自动判别听性脑干反应(AABR)。新生儿在出生后3 d内均已采集足跟血检测9个常...目的探讨新生儿听力和聋病易感基因联合筛查的临床意义。方法选择2014年1~l2月出生后42d进行听力复查的957例新生儿,听力复筛采用畸变产物耳声发射(DPOAE)结合自动判别听性脑干反应(AABR)。新生儿在出生后3 d内均已采集足跟血检测9个常见耳聋基因突变位点,包括GJB2基因(35 del G、176 del 16、235 del C、299 del AT)、GJB3基因(538 C>T)、SLC26A4基因(IVS7-2A>G、2 168 A>G)、线粒体DNA 12S r RNA基因(1 555 A>G、1 494 C>T)。结果听力复筛通过904例,未通过53例,复筛通过率为94.46%。突变携带者50例,携带率为5.22%。听力复筛通过人群中检测出突变携带者45例,携带率为4.98%;听力复筛未通过人群中检测出突变携带者5例,携带率为9.43%。结论新生儿听力和聋病易感基因联合筛查,可发现部分听力筛查不能发现的高危耳聋新生儿和迟发性耳聋新生儿,并可进行婚育及用药指导。展开更多
基金supported by grants from National Natural Science Foundation of China (81470684)Clinical Special Fund of Jiangsu Province (b12014032)+4 种基金Postdoctoral Science Foundation of China (2015M571818)Six Major Categories Talent (2014-WSN-043,2011-WS-074)Innovation and Entrepreneurship Training Program for College Students in Jiangsu Province (201510313003Z,201510313003,KYLX14-1455)Clinic Medical Special Foundation of Jiangsu Province (b12014032)Project of natural science research area of Jiangsu Province (16KJB320016)
文摘Objective:To determine whether a new-born child from a family carrying a deafness gene needs cochlear implantation to avoid dysphonia by screening and sequencing a deafness-related gene.Results:Both screening and sequencing results confirmed that the new born child had a normal GJB2 gene despite the fact that she has a brother suffering from hearing loss triggered by an allelic GJB2 c.176 del 16 mutation.We cloned the GJB2 genes derived from their respective blood genomic DNA into GFP fused plasmids and transfected those plasmids into the 293 T cell line to test for gene function.While the mutated GJB2gene(GJB2 c.176 del 16) of her deaf brother was found to be unable to form the gap junction structure between two adjacent cells,the baby girl’s GJB2 gene ran into no such problems.Conclusion:The screening and sequencing as well as the GJB2 gene function tests invariably showed results consistent with the ABR tested hearing phenotype,which means that the child,with a normal wild type GJB2 gene,does not need early intervention to prevent her from developing hearing loss and dysphonia at a later stage in life.
文摘目的探讨新生儿听力和聋病易感基因联合筛查的临床意义。方法选择2014年1~l2月出生后42d进行听力复查的957例新生儿,听力复筛采用畸变产物耳声发射(DPOAE)结合自动判别听性脑干反应(AABR)。新生儿在出生后3 d内均已采集足跟血检测9个常见耳聋基因突变位点,包括GJB2基因(35 del G、176 del 16、235 del C、299 del AT)、GJB3基因(538 C>T)、SLC26A4基因(IVS7-2A>G、2 168 A>G)、线粒体DNA 12S r RNA基因(1 555 A>G、1 494 C>T)。结果听力复筛通过904例,未通过53例,复筛通过率为94.46%。突变携带者50例,携带率为5.22%。听力复筛通过人群中检测出突变携带者45例,携带率为4.98%;听力复筛未通过人群中检测出突变携带者5例,携带率为9.43%。结论新生儿听力和聋病易感基因联合筛查,可发现部分听力筛查不能发现的高危耳聋新生儿和迟发性耳聋新生儿,并可进行婚育及用药指导。
