长治地区19113例新生儿耳聋基因检测

发布时间：2018-06-18 09:31

本文选题：新生儿 + 耳聋基因　；参考：《中华耳科学杂志》2015年04期

【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,176_191del 16,235 del C,299_300 del AT)、GJB3(538 CT)、SLC26A4(IVS 7-2 AG,2168 AG)和线粒体DNA 12S r RNA(1555 AG,1494 CT)。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。
[Abstract]:Objective to detect the abnormality of deafness gene in 19113 newborns with deafness gene chip. Methods the heel blood of 19113 newborns born in Changzhi City from June to December 2013 was collected and DNA was extracted. Nine mutation sites of 4 common deafness genes were detected by using deafness gene chip. It includes GJB _ 2 / 35 del / G _ (1766) and Mitochondrial DNA ~ (12s) r RNAs / 1555 AGN ~ (1494) CTS / T / T, respectively, including 191del 16235 del / C _ 299300 del / T _ 3 / 538 / T ~ (3 +) / SLC _ 26A _ (4) IVS _ 7-2 AGN _ 2168A). At the same time, the basic information of 19113 newborns was investigated, including audiology examination. Results of the 19113 newborns, A total of 984 cases with abnormal deafness gene were detected. Among them, 437 cases with GJB2 gene heterozygous mutation were 2.295de1C homozygous mutation, 2 cases were homozygous mutation, 66 cases were mtDNA 12SR RNA mutation, 395 cases were 2.07GJB3 gene heterozygosity mutation, 22 cases were double heterozygous mutation type (22 cases). Conclusion GJB2 gene mutation and SLC26A4 gene mutation are the most common deafness gene mutations in neonates in Changzhi area. The rate of gene mutation was mostly in urban area Changzhi County and Xiangyuan County. The deafness gene screening of newborn could detect delayed deafness which could not be detected by drug induced deafness and PDS syndrome.
【作者单位】：山西省长治市妇幼保健院医学遗传室;
【分类号】：R764.43;R440

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