本文關(guān)鍵詞：散發(fā)性胸主動(dòng)脈瘤及夾層患者的TGFB2、TGFBR2及ACTA2基因突變的初步篩查研究　出處：《南昌大學(xué)》2015年碩士論文　論文類(lèi)型：學(xué)位論文

  更多相關(guān)文章： TGFB2 TGFBR2 ACTA2 基因突變 胸主動(dòng)脈瘤 主動(dòng)脈夾層

【摘要】：研究背景與目的:胸主動(dòng)脈瘤及夾層(TAAD)是一類(lèi)臨床上較常見(jiàn)的主動(dòng)脈擴(kuò)張性疾病。其致病因素多且復(fù)雜,急性期病死率高,約20%的病例有遺傳傾向。近年來(lái),越來(lái)越多的學(xué)者開(kāi)始關(guān)注TAAD的發(fā)病與相關(guān)基因突變的關(guān)系,尤其是編碼血管平滑肌細(xì)胞α-肌動(dòng)蛋白的ACTA2及轉(zhuǎn)化生長(zhǎng)因子-β(TGF-β)信號(hào)通路上分別編碼配合和受體的TGFB2、TGFBR2突變成為了研究的熱點(diǎn)。本研究以散發(fā)性胸主動(dòng)脈瘤(STAAD)患者的血液及病變組織標(biāo)本為研究對(duì)象,旨在擴(kuò)增ACTA2、TGFB2及TGFBR2的突變譜,并同時(shí)尋求血液及病變組織標(biāo)本基因變異檢出的差異。方法:經(jīng)過(guò)嚴(yán)格篩選,30例STAAD患者和63例健康人群納入了本研究項(xiàng)目,并自動(dòng)分成病患組和對(duì)照組。病患組成員來(lái)自不同的家庭,入選個(gè)體間均無(wú)血緣關(guān)系。通過(guò)聚合酶鏈反應(yīng)(PCR)和直接基因測(cè)序的方式來(lái)篩查目標(biāo)基因的全部外顯子,并應(yīng)用Pymol軟件繪制3D蛋白質(zhì)模型展示基因變異,血液及病變組織標(biāo)本基因變異檢出的差異采用χ2檢驗(yàn)(P0.05)。結(jié)果:本研究在病患組中檢測(cè)出一個(gè)ACTA2錯(cuò)義突變(c.554 GA,p.R 185 Q),而未在對(duì)照組中篩出。同時(shí)我們還發(fā)現(xiàn)了一個(gè)TGFBR2基因多態(tài)性rs2228048(c.1167 CT,p.N 389 N),其中病患組的血液和病變組織樣本分別檢測(cè)出5個(gè)和13個(gè),對(duì)照組檢測(cè)出2個(gè)。這兩種變異均已被報(bào)道。據(jù)統(tǒng)計(jì)學(xué)分析,病患組和對(duì)照組血液樣本基因多態(tài)性的檢出率及病患組血液和組織樣本等位基因型頻率均存在顯著差異。結(jié)論:ACTA2錯(cuò)義突變(p.R 185 Q)和TGFBR2基因多態(tài)性rs2228048均可能是STAAD發(fā)病的遺傳易感因素。在基因變異檢測(cè)方面,病變組織樣本的要優(yōu)于血液樣本。
[Abstract]:Background & objective: thoracic aortic aneurysm and dissection TAADA is a kind of common clinical aortic dilated disease with many and complex pathogenic factors and high acute mortality. About 20% cases have genetic tendency. In recent years, more and more scholars have begun to pay attention to the relationship between the pathogenesis of TAAD and related gene mutations. In particular, ACTA2 encoding 偽 -actin and transforming growth factor- 尾 (TGF- 尾) signal pathway encode the TGFB2 of coordination and receptor, respectively. TGFBR2 mutation has become a hot topic. The aim of this study was to amplify ACTA2 in blood and pathological tissues of patients with sporadic thoracic aortic aneurysm. The mutation profiles of TGFB2 and TGFBR2, and the difference of gene mutation in blood and pathological tissue samples were also sought. Methods: after strict screening. Thirty patients with STAAD and 63 healthy people were included in the study and were automatically divided into two groups: the patient group and the control group. The members of the patient group were from different families. All exons of the target gene were screened by polymerase chain reaction (PCR) and direct gene sequencing. Pymol software was used to draw 3D protein model to display gene mutation. Results: a ACTA2 missense mutation was detected in a patient group by 蠂 2 test (蠂 2 test). A polymorphic rs2228048(c.1167 CT of the TGFBR2 gene was also found in the control group. P. N389 NV, of which 5 and 13 blood and 13 pathological tissue samples were detected in the patient group and 2 in the control group. Both variants have been reported. There were significant differences in the detection rate of gene polymorphisms in blood samples and the allele frequencies of blood and tissue samples between patients and controls. Conclusion\% ACTA2 missense mutation p. R185 Q). Both rs2228048 polymorphism and TGFBR2 gene polymorphism may be the genetic susceptibility factors of STAAD. Pathological tissue samples are superior to blood samples.
【學(xué)位授予單位】：南昌大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2015
【分類(lèi)號(hào)】：R543.1

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