表面活性蛋白B基因内含子4变异与早产儿呼吸窘迫综合征发病的初步研究

发布时间：2018-05-08 19:30

本文选题：表面活性蛋白B + 基因变异　；参考：《广西医科大学》2013年硕士论文

【摘要】：目的：初步探讨中国局部地区人群中表面活性蛋白B(SPB)基因内含子4变异与早产儿呼吸窘迫综合征(RDS)发病的关系。方法：采用1：1病例对照研究的方法,选择52例早产儿RDS病例(病例组)和52例同期住院的同性别且胎龄接近的非RDS早产儿(对照组)作为研究对象。研究对象来自2011年6月至2012年6月广西医科大学第一附属医院、广西壮族自治区民族医院,广西壮族自治区妇幼保健院、南宁市妇幼保健院新生儿科住院的RDS早产儿和同期住院胎龄接近同性别的非RDS早产儿。应用试剂盒法提取所有研究对象的外周血基因组DNA,应用聚合酶链反应(PCR)方法扩增SPB内含子4序列中含有保守序列motif重复结构的区域,并通过琼脂糖凝胶电泳判读扩增结果,比较两组的变异结果。结果：所有研究对象(包括病例组和对照组)均在550bp处见到目的条带,此外有4例(3例RDS及1例非RDS除目的条带外还可以见到一条大于目的条带(约650bp)的扩增产物,提示为SPB内含子4序列发生了插入突变。RDS组及非RDS组SPB内含子4的变异发生率分别为5.77%和1.92%。结论:SPB基因内含子4的变异存在于广西早产儿人群,该变异与早产儿RDS之间可能有一定关系,但尚不能明确,有待进一步研究。
[Abstract]:Objective: to investigate the relationship between intron 4 variation of surfactant protein (SPB) gene and the incidence of respiratory distress syndrome (RDS) in preterm infants. Methods: a 1:1 case-control study was conducted in 52 premature infants with RDS (case group) and 52 non-preterm infants (control group) with the same sex and similar gestational age who were hospitalized at the same time. The subjects were the first affiliated Hospital of Guangxi Medical University from June 2011 to June 2012, the National Hospital of Guangxi Zhuang Autonomous region, and the Maternal and Child Health Hospital of Guangxi Zhuang Autonomous region. Nanning Maternal and Child Health Hospital (MCH) hospitalized RDS preterm infants and non RDS premature infants whose gestational age was close to the same sex in the same period. The genomic DNA of peripheral blood of all the subjects was extracted by kit method. The region containing conserved motif repeats in intron 4 of SPB was amplified by polymerase chain reaction (PCR), and the results were interpreted by agarose gel electrophoresis. The results of variation were compared between the two groups. Results: all the subjects (including the case group and the control group) saw the target band at the 550bp. In addition, 4 cases of RDS and 1 case of non-target RDS could also see an amplification product which was larger than the target band (about 650 BP) in addition to the target band. The results suggested that the mutation rate of SPB intron 4 in SPB intron 4 group and non RDS group was 5.77% and 1.92%, respectively. Conclusion the mutation of intron 4 of the 1: SPB gene exists in preterm infants in Guangxi. There may be a certain relationship between the variation and RDS of preterm infants, but it is not clear and needs further study.
【学位授予单位】：广西医科大学
【学位级别】：硕士
【学位授予年份】：2013
【分类号】：R722.6

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