【摘要】 目的用耳聋基因芯片方法检测19113名新生儿是否存在中国人常见耳聋基因的异常。方法采集2013年6月-12月长治市辖区内出生的19113名新生儿足跟血并提取DNA,应用耳聋基因芯片检测4个常见耳聋基因的9个突变位点,包括GJB2（35 del G,176₁91del 16,235 del C,299₃00 del AT）、GJB3（538 C>T）、SLC26A4（IVS 7-2 A>G,2168 A>G）和线粒体DNA 12S r RNA（1555 A>G,1494 C>T）。同时对19113名新生儿的基本信息进行了调查,包括听力学检查。结果 19113名新生儿中,共检测出耳聋基因异常者984例（5.15%）,其中GJB2基因杂合突变437例（2.29%）,235de1C纯合突变2例（0.01%）,线粒体DNA 12S r RNA突变66例（0.35%）,SLC26A4基因杂合突变型395例（2.07%）,GJB3基因杂合突变62例（0.32%）,双杂合突变型22例（0.12%）。结论长治地区新生儿常见耳聋基因突变以GJB2基因突变、SLC26A4基因突变为主。基因突变率以城区、长治县和襄垣县居多,新生儿耳聋基因筛查可以对药物性耳聋、PDS综合征等听力筛查无法检测的迟发性耳聋进行检测。更多还原

【Abstract】 Objective 19113 newborns with deafness gene chip testing whether there is a Chinese common deafness gene abnormality.Methods Gathering on June 6, 2013- December 19113 infants born within their respective jurisdictions of changzhi city heel blood and extract DNA, application of deafness gene chip to detect nine four common deafness gene mutations, including GJB2（35 del G, 176₁91del del 16235 C,299₃00 del AT）, GJB3（538 C > T）, SLC26A4（IVS, 7-2 A > G 2168 A > G） and mitochondrial DNA 12 s r RNA（1555 A > G, 1494 C > T）.The basic information of 19113 newborns were investigated, including audiology examination.Results 19113 infants were detected deafness gene was abnormal in 984（5.15%）, hybrid GJB2 gene mutations among 437 cases（2.29%）, 235 de1 c homozygous mutations in 2 cases（0.01%）, 12 s r RNA mitochondrial DNA mutation in 66 cases（0.35%）, hybrid SLC26A4 gene mutation type 395 cases（2.07%）, hybrid GJB3 gene mutation in 62 cases（0.32%）, double heterozygous mutations in 22 cases（0.12%）.Conclusions Changzhi region newborn common deafness gene mutation is given priority to with GJB2 gene mutations, SLC26A4 gene mutations.Gene mutation rate in the majority with city, changzhi county and xiangyuan county, neonatal deafness gene screening of drug-induced deafness, PDS syndrome detecting a late-onset deafness hearing screening cannot be detected.更多还原