本文選題：小缺損型先天性心臟病 + 肺動(dòng)脈高壓�。� 參考：《華中科技大學(xué)》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(dòng)脈高壓的發(fā)生同BMPR2基因改變的關(guān)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(xué)同濟(jì)醫(yī)學(xué)院附屬協(xié)和醫(yī)院7號(hào)手術(shù)室行心內(nèi)直視術(shù)的50例先心病性肺動(dòng)脈高壓的患兒。根據(jù)超聲心動(dòng)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(kuò)增BMPR2基因1-13號(hào)外顯子并測(cè)序?qū)ふ易儺慄c(diǎn)。結(jié)果:小缺損組發(fā)現(xiàn)1例復(fù)雜先天性心臟病合并重度肺動(dòng)脈高壓患兒BMPR2基因10號(hào)外顯子發(fā)生G→T、G→A雜合子錯(cuò)義突變(c.1317 GT;c.1318 GA),該位置變異將會(huì)導(dǎo)致BMPR2基因編碼的氨基酸發(fā)生改變,即:谷氨酸變?yōu)樘於彼帷⒗i氨酸變?yōu)楫惲涟彼?蛋白質(zhì)空間結(jié)構(gòu)也會(huì)隨之發(fā)生構(gòu)象改變。大缺損組未發(fā)現(xiàn)任何純合子或雜合子有義突變。其次,共發(fā)現(xiàn)5例患兒發(fā)生BMPR2基因12號(hào)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(dòng)脈高壓4例,輕度肺動(dòng)脈高壓1例。結(jié)論:1、BMPR2基因突變可能是小缺損型先天性心臟病合并肺動(dòng)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(dòng)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(xué)位授予單位】：華中科技大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2016
【分類號(hào)】：R725.4

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