散發(fā)性胸主動脈瘤及夾層患者的TGFB2、TGFBR2及ACTA2基因突變的初步篩查研究
發(fā)布時間:2018-01-15 09:17
本文關鍵詞:散發(fā)性胸主動脈瘤及夾層患者的TGFB2、TGFBR2及ACTA2基因突變的初步篩查研究 出處:《南昌大學》2015年碩士論文 論文類型:學位論文
更多相關文章: TGFB2 TGFBR2 ACTA2 基因突變 胸主動脈瘤 主動脈夾層
【摘要】:研究背景與目的:胸主動脈瘤及夾層(TAAD)是一類臨床上較常見的主動脈擴張性疾病。其致病因素多且復雜,急性期病死率高,約20%的病例有遺傳傾向。近年來,越來越多的學者開始關注TAAD的發(fā)病與相關基因突變的關系,尤其是編碼血管平滑肌細胞α-肌動蛋白的ACTA2及轉化生長因子-β(TGF-β)信號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。本研究以散發(fā)性胸主動脈瘤(STAAD)患者的血液及病變組織標本為研究對象,旨在擴增ACTA2、TGFB2及TGFBR2的突變譜,并同時尋求血液及病變組織標本基因變異檢出的差異。方法:經(jīng)過嚴格篩選,30例STAAD患者和63例健康人群納入了本研究項目,并自動分成病患組和對照組。病患組成員來自不同的家庭,入選個體間均無血緣關系。通過聚合酶鏈反應(PCR)和直接基因測序的方式來篩查目標基因的全部外顯子,并應用Pymol軟件繪制3D蛋白質模型展示基因變異,血液及病變組織標本基因變異檢出的差異采用χ2檢驗(P0.05)。結果:本研究在病患組中檢測出一個ACTA2錯義突變(c.554 GA,p.R 185 Q),而未在對照組中篩出。同時我們還發(fā)現(xiàn)了一個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出5個和13個,對照組檢測出2個。這兩種變異均已被報道。據(jù)統(tǒng)計學分析,病患組和對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。結論:ACTA2錯義突變(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.
【學位授予單位】:南昌大學
【學位級別】:碩士
【學位授予年份】:2015
【分類號】:R543.1
【參考文獻】
相關期刊論文 前5條
1 李科;劉俊明;;基質金屬蛋白酶-2,-9與冠心病關系的研究進展[J];中國介入心臟病學雜志;2011年02期
2 蘇偉;高楓;龔少愚;張亦哲;陸曙;;原發(fā)性高血壓患者血清基質金屬蛋白酶9與升主動脈彈性的關系[J];中華高血壓雜志;2010年04期
3 魏濤;洪濤;徐德民;宋凱;鄭佳予;楊守國;楊兆華;陸樹洋;王春生;;基質金屬蛋白酶-2及其組織抑制因子在急性升主動脈夾層中的表達和意義[J];中國臨床醫(yī)學;2009年02期
4 宋衛(wèi)華;黨愛民;朱俊明;呂納強;劉國仗;惠汝太;;高血壓合并主動脈夾層基質金屬蛋白酶9基因-1562C/T多態(tài)性[J];中華內(nèi)科雜志;2006年05期
5 宋衛(wèi)華,朱俊明,黨愛民,呂納強,劉國仗,惠汝太;基質金屬蛋白酶2基因-1575G/A和-1059G/A多態(tài)性與主動脈夾層的關系[J];臨床心血管病雜志;2005年06期
,本文編號:1427700
本文鏈接:http://sikaile.net/yixuelunwen/xxg/1427700.html
最近更新
教材專著