本文選題：表面活性蛋白B + 基因變異��； 參考：《廣西醫(yī)科大學(xué)》2013年碩士論文

【摘要】：目的：初步探討中國(guó)局部地區(qū)人群中表面活性蛋白B(SPB)基因內(nèi)含子4變異與早產(chǎn)兒呼吸窘迫綜合征(RDS)發(fā)病的關(guān)系。 方法：采用1：1病例對(duì)照研究的方法,選擇52例早產(chǎn)兒RDS病例(病例組)和52例同期住院的同性別且胎齡接近的非RDS早產(chǎn)兒(對(duì)照組)作為研究對(duì)象。研究對(duì)象來(lái)自2011年6月至2012年6月廣西醫(yī)科大學(xué)第一附屬醫(yī)院、廣西壯族自治區(qū)民族醫(yī)院,廣西壯族自治區(qū)婦幼保健院、南寧市婦幼保健院新生兒科住院的RDS早產(chǎn)兒和同期住院胎齡接近同性別的非RDS早產(chǎn)兒。應(yīng)用試劑盒法提取所有研究對(duì)象的外周血基因組DNA,應(yīng)用聚合酶鏈反應(yīng)(PCR)方法擴(kuò)增SPB內(nèi)含子4序列中含有保守序列motif重復(fù)結(jié)構(gòu)的區(qū)域,并通過(guò)瓊脂糖凝膠電泳判讀擴(kuò)增結(jié)果,比較兩組的變異結(jié)果。 結(jié)果：所有研究對(duì)象(包括病例組和對(duì)照組)均在550bp處見(jiàn)到目的條帶,此外有4例(3例RDS及1例非RDS除目的條帶外還可以見(jiàn)到一條大于目的條帶(約650bp)的擴(kuò)增產(chǎn)物,提示為SPB內(nèi)含子4序列發(fā)生了插入突變。RDS組及非RDS組SPB內(nèi)含子4的變異發(fā)生率分別為5.77%和1.92%。 結(jié)論:SPB基因內(nèi)含子4的變異存在于廣西早產(chǎn)兒人群,該變異與早產(chǎn)兒RDS之間可能有一定關(guān)系,但尚不能明確,有待進(jìn)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.
【學(xué)位授予單位】：廣西醫(yī)科大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2013
【分類(lèi)號(hào)】：R722.6

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