先天性心脏间隔缺损患儿GATA-4基因突变的研究

发布时间：2018-04-18 09:09

本文选题：心脏间隔缺损 + 先天性　；参考：《遵义医学院》2012年硕士论文

【摘要】：先天性心脏间隔缺损是一类严重危害健康的先天心脏畸形,作为一种极其复杂的疾病,先天性心脏间隔缺损主要在胚胎心脏发育的易损期,由于遗传因素和环境因素的共同作用,一些与心脏发育相关的基因及其产物出现异常而导致胚胎发育的异常。GATA-4是目前研究较多的与心脏发育密切相关的转录因子之一。目的探索先天性心脏间隔缺损患儿的分子病因,以期明确GATA-4基因参与先天性心脏间隔缺损形成的潜在机制。方法收集100例先天性心脏间隔缺损患儿的血标本和相关临床资料。使用血液基因组DNA抽提试剂盒抽提外周静脉血基因组DNA。应用聚合酶链反应扩增GARA-4基因的7个外显子编码区和邻近序列后分别直接测序。借助BLAST程序将所测序列与GenBank中的已知序列进行比对以识别基因突变。结果本课题组收集到的100例先天性心脏间隔缺损患儿GATA-4基因7个外显子PCR产物经检测未发现突变。结论本课题组100例先天性心脏间隔缺损患儿的GATA-4基因测序结果分析中,未发现GATA-4基因突变。先天性心脏间隔缺损是一个多因素、多基因的疾病,病因较为复杂,非一个基因所能决定的,是否与其它基因存在链锁共同作用,从而导致先天性心脏间隔缺损的发生,需进一步的研究。先天性心脏间隔缺损发病机制除与遗传因素有关外,环境因素与遗传因素的相互作用也是先心病发生的重要机制。
[Abstract]:Congenital heart septal defect is a kind of congenital heart malformation which seriously endangers health. As a very complicated disease, congenital heart septal defect mainly occurs during the vulnerable period of embryonic heart development.Due to the combination of genetic factors and environmental factors, some genes and their products associated with cardiac development are abnormal, resulting in abnormal embryonic development. GATA-4 is one of the transcription factors closely related to cardiac development.Objective to investigate the molecular etiology of congenital heart septal defect (CHD) in order to clarify the potential mechanism of GATA-4 gene involved in the formation of congenital cardiac septal defect (CHD).Methods Blood samples and clinical data of 100 children with congenital cardiac septal defect were collected.The genomic DNA of peripheral vein was extracted by using the blood genomic DNA extraction kit.Seven exon coding regions and adjacent sequences of GARA-4 gene were amplified by polymerase chain reaction (PCR) and sequenced respectively.The sequence was compared with the known sequence in GenBank by BLAST program to identify gene mutation.Results the PCR products of 7 exons of GATA-4 gene were not detected in 100 children with congenital cardiac septal defect.Conclusion GATA-4 gene mutation was not found in 100 children with congenital cardiac septal defect.Congenital cardiac septal defect is a multi-factor, multi-gene disease, the etiology is more complex, which can not be determined by one gene, whether there is a link with other genes, which leads to the occurrence of congenital cardiac septal defect.Further study is needed.The pathogenesis of congenital cardiac septal defect is not only related to genetic factors, but also the interaction of environmental factors and genetic factors is an important mechanism of congenital heart disease.
【学位授予单位】：遵义医学院
【学位级别】：硕士
【学位授予年份】：2012
【分类号】：R725.4

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