本文選題：小缺損型先天性心臟病 + 肺動脈高壓�。� 參考：《華中科技大學》2016年碩士論文

【摘要】：目的:探討不同缺損大小先天性心臟病患兒肺動脈高壓的發(fā)生同BMPR2基因改變的關系。方法:收集自2014年3月20日至2014年10月20日在華中科技大學同濟醫(yī)學院附屬協(xié)和醫(yī)院7號手術室行心內直視術的50例先心病性肺動脈高壓的患兒。根據超聲心動圖診斷心臟隔膜缺損面積分為大缺損組及小缺損組。分別抽取兩組病例靜脈血提取基因組DNA,PCR擴增BMPR2基因1-13號外顯子并測序尋找變異點。結果:小缺損組發(fā)現1例復雜先天性心臟病合并重度肺動脈高壓患兒BMPR2基因10號外顯子發(fā)生G→T、G→A雜合子錯義突變(c.1317 GT;c.1318 GA),該位置變異將會導致BMPR2基因編碼的氨基酸發(fā)生改變,即:谷氨酸變?yōu)樘於彼�、纈氨酸變?yōu)楫惲涟彼?蛋白質空間結構也會隨之發(fā)生構象改變。大缺損組未發(fā)現任何純合子或雜合子有義突變。其次,共發(fā)現5例患兒發(fā)生BMPR2基因12號外顯子1225位堿基發(fā)生GA的單核苷酸多肽性改變。其中小缺損組3例,大缺損組2例;重度肺動脈高壓4例,輕度肺動脈高壓1例。結論:1、BMPR2基因突變可能是小缺損型先天性心臟病合并肺動脈高壓患兒的致病因素;2、攜帶BMPR2基因異常的先天性心臟病患兒易于發(fā)生重度肺動脈高壓。
[Abstract]:Objective: to investigate the relationship between pulmonary hypertension and BMPR2 gene change in children with congenital heart disease with different defect sizes.Methods: from March 20, 2014 to October 20, 2014, 50 children with congenital heart disease with pulmonary hypertension were enrolled in the operation room 7 of Union Hospital, Tongji Medical College, Huazhong University of Science and Technology.According to echocardiography, the area of cardiac septum defect was divided into large defect group and small defect group.BMPR2 gene exon 1-13 was amplified by PCR from venous blood of two groups of patients and the mutation point was found by sequencing.Results: in the small defect group, a case of complex congenital heart disease complicated with severe pulmonary hypertension was found to have a missense mutation in the BMPR2 gene exon 10. The missense mutation of the heterozygote was identified as C. 1317 GTT / c. 1318 GAA. This mutation will lead to the coding of BMPR2 gene.Amino acid changes,That is, glutamic acid becomes aspartic acid, valine becomes isoleucine, and the spatial structure of protein also changes in conformation.No homozygous or heterozygous mutations were found in the large defect group.Secondly, a total of 5 children were found to have single nucleotide polypeptide changes of GA at the 1225 base of exon 12 of BMPR2 gene.There were 3 cases in small defect group, 2 cases in large defect group, 4 cases in severe pulmonary hypertension and 1 case in mild pulmonary hypertension.Conclusion the mutation of BMPR2 gene may be a pathogenic factor in children with small defect congenital heart disease complicated with pulmonary hypertension. Children with congenital heart disease with abnormal BMPR2 gene are prone to develop severe pulmonary hypertension.
【學位授予單位】：華中科技大學
【學位級別】：碩士
【學位授予年份】：2016
【分類號】：R725.4

【參考文獻】

相關期刊論文 前10條

1 張岳農;曾志文;王雄球;;不同劑量鹽酸戊乙奎醚對小兒先天性心臟病肺動脈高壓體外循環(huán)后細胞因子釋放及肺保護的影響[J];中外醫(yī)療;2014年21期

2 劉慧杰;;先天性心臟病合并肺動脈高壓患者的麻醉處理[J];轉化醫(yī)學雜志;2014年01期

3 宋磊軍;魏金聚;劉愛英;;先心病合并肺動脈高壓手術的麻醉處理[J];中國醫(yī)學工程;2013年08期

4 龔興瑞;秦成名;王賢裕;向勇;許先成;;鹽酸戊乙奎醚對大鼠體外循環(huán)轉流期間微循環(huán)的影響[J];陜西醫(yī)學雜志;2013年04期

5 莫偉波;黎必萬;梁軍;陸彬堂;檀文好;黃華山;;右美托咪定對小兒先天性心臟病外科手術麻醉血流動力學的影響[J];嶺南心血管病雜志;2013年02期

6 沈妍;韓流;鮑紅光;;丙泊酚對肺動脈高壓患者肺循環(huán)的影響[J];醫(yī)學綜述;2013年05期

7 黃悅;張馬忠;;復雜先天性心臟病手術患兒的麻醉管理[J];中華臨床醫(yī)師雜志(電子版);2012年22期

8 康靜婷;梁前進;;單核苷酸多態(tài)性的研究及其生物學意義[J];生物學通報;2012年03期

9 方劍;;低體質量小兒先天性心臟病合并肺動脈高壓心內直視手術的麻醉處理[J];中國醫(yī)藥指南;2011年12期

10 蔣怡燕;喬彬;吳莉莉;段文元;鞠吉峰;林曉娜;徐軍;;33例完全性肺靜脈異位引流手術麻醉處理[J];中國體外循環(huán)雜志;2009年01期

，

本文編號：1742037