新生儿聋病基因（GJB2、SLC26A4、线粒体12SrRNA）的分子流行病学研究
发布时间：2019-06-07 10:57
【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IVS7-2AG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IVS7-2AG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。
[Abstract]:Objective to explore the molecular epidemiological characteristics of deaf susceptible genes in neonates by screening deaf susceptible genes, that is, to detect the mutation of neonatal (GJB2,SLC26A4,) mtDNA gene, and to explore the molecular epidemiological characteristics of deaf susceptible genes in neonates. It provides the basis for the formulation of strategies to prevent deafness and treat deafness. Methods from January 2008 to June 2009, 659 neonates were born in the obstetrics ward of Shengjing Hospital affiliated to China Medical University. On the 3rd day after birth, neonatal genetic disease screening sampling card containing hearing screening information and blood sample information was used to collect trace heel blood (no more than 125ul). The sampling card can be directly used in mtDNA 12s rRNA, GJB2 gene, SLC26A4 gene polymerase chain amplification reaction (polymerase chain reaction,PCR). Alw26I restriction endonuclease screening of mitochondrial 12SrRNA A1555G point mutation, sequencing of PCR products in positive cases. The PCR products were sequenced directly in the coding region of GJB2 gene and the IVS7-2AG mutation site of SLC26A4 gene. The sequencing results were compared and analyzed by DNA Star software. The epidemiological characteristics of neonates with gene mutation were analyzed. Results among 659 neonates, 7 cases had 235delC heterozygous mutation of GJB2 gene, the carrying rate of pathogenic mutation was 1.06%, 3 cases of IVS7-2AG heterozygous mutation of SLC26A4 gene, the carrying rate of pathogenic mutation was 0.46%, and the total mutation rate of three genes was 1.52%. The carrying rate of pathogenic mutation was 2.01% in males and 0.96% in females, and 1.82% in Manchu neonates and 1.57% in Han nationality. Conclusion the mutation rate of deafness susceptible gene in 659 neonates is 1.52%. There is a trend that male is more than female and Manchu is more than Han nationality. It is an important measure to reduce the incidence of deafness and improve the quality of the population to screen the susceptible genes of deaf diseases in neonates and to detect the high risk population of hereditary deafness at an early stage.
【学位授予单位】：中国医科大学
【学位级别】：硕士
【学位授予年份】：2010
【分类号】：R764.5
本文编号：2494742
[Abstract]:Objective to explore the molecular epidemiological characteristics of deaf susceptible genes in neonates by screening deaf susceptible genes, that is, to detect the mutation of neonatal (GJB2,SLC26A4,) mtDNA gene, and to explore the molecular epidemiological characteristics of deaf susceptible genes in neonates. It provides the basis for the formulation of strategies to prevent deafness and treat deafness. Methods from January 2008 to June 2009, 659 neonates were born in the obstetrics ward of Shengjing Hospital affiliated to China Medical University. On the 3rd day after birth, neonatal genetic disease screening sampling card containing hearing screening information and blood sample information was used to collect trace heel blood (no more than 125ul). The sampling card can be directly used in mtDNA 12s rRNA, GJB2 gene, SLC26A4 gene polymerase chain amplification reaction (polymerase chain reaction,PCR). Alw26I restriction endonuclease screening of mitochondrial 12SrRNA A1555G point mutation, sequencing of PCR products in positive cases. The PCR products were sequenced directly in the coding region of GJB2 gene and the IVS7-2AG mutation site of SLC26A4 gene. The sequencing results were compared and analyzed by DNA Star software. The epidemiological characteristics of neonates with gene mutation were analyzed. Results among 659 neonates, 7 cases had 235delC heterozygous mutation of GJB2 gene, the carrying rate of pathogenic mutation was 1.06%, 3 cases of IVS7-2AG heterozygous mutation of SLC26A4 gene, the carrying rate of pathogenic mutation was 0.46%, and the total mutation rate of three genes was 1.52%. The carrying rate of pathogenic mutation was 2.01% in males and 0.96% in females, and 1.82% in Manchu neonates and 1.57% in Han nationality. Conclusion the mutation rate of deafness susceptible gene in 659 neonates is 1.52%. There is a trend that male is more than female and Manchu is more than Han nationality. It is an important measure to reduce the incidence of deafness and improve the quality of the population to screen the susceptible genes of deaf diseases in neonates and to detect the high risk population of hereditary deafness at an early stage.
【学位授予单位】：中国医科大学
【学位级别】：硕士
【学位授予年份】：2010
【分类号】：R764.5
【引证文献】
相关博士学位论文 前1条
1 赖若沙;极重度感音神经性聋儿童致聋因素分析、常见基因检测及其种族差异性研究[D];中南大学;2011年
，本文编号：2494742
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