【作者】 张东红；

【导师】 马秀岚；

【作者基本信息】 中国医科大学 ， 耳鼻咽喉科学， 2010， 硕士

【摘要】 目的通过对新生儿开展聋病易感基因筛查,即对新生儿(GJB2、SLC26A4、线粒体12SrRNA)基因突变情况进行检测,探讨新生儿中聋病易感基因的分子流行病学特点,为制定防聋治聋策略提供依据。方法以2008年1月至2009年6月出生于中国医科大学附属盛京医院产科病房的659例新生儿作为研究对象。在新生儿生后3天,采用含有听力筛查信息和血样信息的新生儿遗传疾病筛查采样卡,采集新生儿点滴微量足跟血(不超过125ul)。采样卡可以直接用于线粒体12SrRNA、GJB2基因、SLC26A4基因的聚合酶链扩增反应(polymerase chain reaction,PCR)。Alw26I限制性内切酶筛查线粒体12SrRNA A1555G点突变,对酶切阳性病例进行PCR产物测序验证。对GJB2基因编码区和SLC26A4基因IVS7-2A>G突变位点所在区域进行PCR产物的直接测序。DNAStar软件对测序结果进行比对分析。对基因突变的新生儿进行流行病学特点分析。结果659例新生儿中GJB2基因235delC杂合突变7例,致病突变的携带率为1.06%; SLC26A4基因IVS7-2A>G杂合突变3例,致病突变的携带率为0.46%,三项基因总突变率1.52%；携带突变基因的新生儿男性占2.01%,女性占0.96%；满族新生儿致病突变的携带率最高,为1.82%,汉族为1.57%。结论结论659例新生儿中耳聋易感基因突变率为1.52%,有男性多于女性、满族多于汉族的趋势。在新生儿中开展聋病易感基因筛查,早期发现遗传性耳聋高危人群,是降低耳聋发病率、提高人口素质的重要措施。更多还原

【Abstract】 ObjectiveTo discuss the report of newborn gene screening in order to find the feature of the epidemiologic of the pathogenic in Liaoning province.discuss the relationship of the genes mutations and facters. providing a basis to draft pre-deaf and treat-deaf strategy.Methodsix hundred and fiftynine newborn babies from Feb.2008 to Jun 2009 accepted the gene screening. Newborn genetic disease screening cards (the utility Model Patent-200720103139.4) were used for collecting the blood spot from the calcar pedis within the moment of newborn. The cards can be directly performed the polymerase chain reaction (PCR) for screening the mitochondrial 12SrRNA 1555G and GJB2 as well as SLC26A4 genes mutations. The restriction enzyme Alw26I was used to recognize the point mutation of 12SrRNA A1555G. The samples with the possible 12SrRNA A1555G mutation were then sequenced to verify. The PCR products from the GJB2 coding region and SLC26A4 IVS7-2A>G hot spot region were sequenced directly. The software of DNAStar was used to analysis the sequence,molecular epidemiology discussion of the newborn with genes mutations.ResultFor the GJB2 gene screening, seven were 235delC heterozygote,1.06%; For the SLC26A4 gene screening, three with the heterozygote of IVS7-2A>G mutation was found,0.46%; Totally 1.52%of newborn carried the genes mutaion.2.01% male carried the genes mutation,female 0.96%.1.82% of the Manchu carried the genes mutation,Han 1.57%.ConclusionIt may be all the gene screening found 10 newborn babies of the 659 harbored the changes in the three genes. Totally 1.52%of newborn carried the genes mutaion.We found the tendency is male has more carried mutation than female,Manchu has more carried mutation than Han.Newborn gene screening for the purpose of early diagnosis and discovery the prelingual or late-onset or the high risk as well as the pathogenic carriers.This providing a basis to draft pre-deaf and treat-deaf strategy.更多还原