深圳市新生儿听力及耳聋基因联合筛查模式的研究

发布时间：2018-04-09 05:30

本文选题：新生儿　切入点：耳聋　出处：《南华大学》2016年硕士论文

【摘要】：目的通过分析深圳市新生儿听力与耳聋基因联合筛查的数据,掌握耳聋基因突变位点在普通人群中的分布特征,具体了解深圳市耳聋主要致病基因和突变的特点,将传统的听力筛查方式与联合筛查方式进行比较,初步建立适宜新生儿使用的听力及耳聋基因联合筛查模式。方法以2014年6月-2015年10月在深圳市参与新生儿听力及耳聋基因联合筛查项目的医疗单位出生的8209例新生儿作为筛查对象,出生时采集新生儿的足跟血2-3滴,采用物理性听力筛查和飞行时间质谱检测技术对新生儿进行听力与耳聋基因联合筛查,针对中国人4个常见耳聋基因的20个突变位点。结果1.GJB2基因突变、SLC26A4基因突变、12Sr RNA基因突变、GJB3基因突变在普通新生儿人群中的检出率依次为2.45%、1.71%、0.30%、0.41%;携带两个基因以上的人群检出率是0.13%。新生儿的耳聋基因占突变检出人群的构成比依次为48.79%、34.22%、6.07%、8.50%。2.GJB2基因235del C突变、SLC26A4基因IVS7-2AG突变、12Sr RNAc.1555AG突变的检出率为1.96%、1.24%、0.19%。3.8209例新生儿物理性听力初筛未通过率为18.75%,听力联合耳聋基因筛查未通过率为15.00%,将其与单纯的物理性听力初筛进行比较,差异具有统计学意义。在听力复筛1539例新生儿中,未通过筛查的有160例,未通过率为10.40%,与耳聋基因联合分析中未通过率为15.27%的方式比较,差异具有统计学意义。4.区妇幼使用OAE联合ABR复筛,未通过率为2.83%。将该结果与总体单独使用OAE复筛的未通过率为2.40%,区妇幼单独使用OAE复筛的未通过率为2.49%,区妇幼单独使用ABR复筛的未通过率1.66%进行比较,差异具有统计学意义。结论1.新生儿中耳聋基因的常见突变位点为GJB2 235del C突变、SLC26A4 IVS7-2AG突变、12Sr RNAc.1555AG突变。2.物理性听力筛查与耳聋基因联合筛查的检出率比单纯的物理性听力筛查检出率高。3.OAE+ABR的方式可提高听力损失的检出率,联合使用比单一的OAE或ABR方式好。4.本研究获得了该区域的新生儿中耳聋基因筛查的分子流行病学特点,4个基因在新生儿人群中的检出率及20个位点在新生儿人群中的分布特点,能为耳聋患者的早期诊断、干预、治疗和遗传咨询提供理论依据。
[Abstract]:Objective to analyze the data of combined screening of hearing and deafness genes in neonates in Shenzhen, and to understand the distribution of mutation loci of deafness gene in the general population, and to understand the main pathogenic genes and mutation characteristics of deafness in Shenzhen.The traditional hearing screening method was compared with the combined screening method, and the combined screening model of hearing and deafness genes suitable for newborn was established preliminarily.Methods from June 2014 to October 2015, 8209 newborns who were born in a medical unit who participated in the joint screening program of neonatal hearing and deafness genes in Shenzhen City were selected as screening objects, and 2-3 drops of heel blood were collected at the time of birth.Physical hearing screening and time of flight mass spectrometry (TF-MS) were used to screen hearing and deafness genes in newborns, and 20 mutation sites of 4 common deafness genes in Chinese were analyzed.Results the detection rate of 1.GJB2 gene mutation (SLC26A4) and 12Sr RNA gene mutation (GJB3) was 2.451.71and 0.30g / 0.41, respectively, and the detection rate of GJB3 gene was 0.13g for those with more than two genes.The proportion of deafness gene in newborns was 48.79, 34.22 and 6.07, 8.50 and 8.50.2.The detection rate of 12Sr RNAc.1555AG mutation in SLC26A4 IVS7-2AG mutation was 1.960.240.19.3.8209 neonates with physical hearing screening was 18.755.The rate of hearing associated with deafness gene was 18.75.The unpass rate of screening was 15.00 and compared with the primary screening of physical hearing.The difference is statistically significant.Among the 1539 newborns with hearing screening, 160 cases failed the screening, and the unpass rate was 10.40%. The difference was statistically significant compared with the unpassed rate of 15.27% in the combined analysis of deafness gene.OAE combined with ABR was used to screen women and children in the area, and the unpassed rate was 2.83%.The results were compared with the unpass rate of 2.40% for OAE screen alone, 2.49% for women and children using OAE screen alone, and 1.66% for women and children using ABR screen alone, respectively. The difference was statistically significant.Conclusion 1.The common mutation locus of deafness gene in newborn is GJB2 235del C mutation SLC26A4 IVS7-2AG mutation and 12Sr RNAc.1555AG mutation.The detection rate of physical hearing screening combined with deafness gene screening was higher than that of physical hearing screening alone. 3. OAE ABR could improve the detection rate of hearing loss, and the combination of physical hearing screening and deafness gene screening was better than single OAE or ABR method.In this study, the molecular epidemiologic characteristics of gene screening for middle deafness in newborns in this area were obtained. The detection rate of 4 genes and the distribution characteristics of 20 loci in newborns were obtained, which can be used as early diagnosis and intervention for deafness patients.Treatment and genetic counseling provide theoretical basis.
【学位授予单位】：南华大学
【学位级别】：硕士
【学位授予年份】：2016
【分类号】：R764.43

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