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新生儿听力筛查与耳聋基因筛查联合应用的意义
根据世界卫生组织（WHO）估计，2005年全球听力残疾人数为2.78亿，防聋治聋已成为全球关注的公共卫生项目。作为世界人口大国，我国因聋致哑的问题尤为突出，无数听力残疾人及其家庭承受着巨大的痛苦和沉重的经济负担。2006年全国第二次残疾人抽样调查结果显示,我国有听力障碍者2780万，占残疾人总数的33.52%，位居各类残疾之首。在听力障碍者中，0～6岁听障儿童约有13.7万，每年新增先天性听力障碍婴儿约3～4万人，另外据估算，我国每年增加药物性耳聋和迟发性耳聋导致儿童听力障碍3万人左右。耳聋已成为严重影响我国人口素质、增加国民医疗支出、制约经济快速发展的重大疾病。虽然听障儿童与健听儿童智力发展水平没有差别[1]，但有证据表明，中度及中度以上的听力障碍对言语、语言和认知的发展都有严重的负面影响[2]，成为听障人士融入主流社会的主要障碍。
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Objective The study is to identify the carrier rate of common deafness mutation in Chinese pregnant women via detecting deafness gene mutations with gene chip. Methods The pregnant women in obstetric clinic without hearing impairment and hearing disorders family history were selected. The informed consent was signed. Peripheral blood was taken to extract genom-ic DNA. Application of genetic deafness gene chip for detecting 9 mutational hot spot of the most common 4 Chinese deafness genes, namely GJB2 (35delG,176del16bp, 235delC, 299delAT), GJB3 (C538T) ,SLC26A4 ( IVS72A>G, A2168G) and mito-chondrial DNA 12S rRNA (A1555G, C1494T) . Further genetic testing were provided to the spouses and newborns of the screened carriers. Results Peripheral blood of 430 pregnant women were detected,detection of deafness gene mutation carri-ers in 24 cases(4.2%), including 13 cases of the GJB2 heterozygous mutation, 3 cases of SLC26A4 heterozygous mutation, 1 cases of GJB3 heterozygous mutation, and 1 case of mitochondrial 12S rRNA mutation. 18 spouses and 17 newborns took fur-ther genetic tests, and 6 newborns inherited the mutation from their mother. Conclusion The common deafness genes muta-tion has a high carrier rate in pregnant women group,235delC and IVS7-2A>G heterozygous mutations are common.
