云南佤族腦梗死與ApoE基因多態(tài)性相關性研究
發(fā)布時間:2018-03-20 01:09
本文選題:佤族 切入點:載脂蛋白E 出處:《昆明醫(yī)科大學》2014年碩士論文 論文類型:學位論文
【摘要】:研究背景:腦梗死(C1)是一組由多種危險因素共同影響的疾病,基因多態(tài)性可能為腦梗死的發(fā)病機制之一。載脂蛋白E(Apolipoprotein E, ApoE)主要存在于血漿的某些脂蛋白內(nèi),是一種直接參與膽固醇代謝的糖蛋白,通過低密度脂蛋白(LDL)受體和低密度脂蛋白受體相關蛋白(LRP)參與機體脂質(zhì)代謝及調(diào)節(jié)膽固醇平衡,影響成人血脂的濃度。ApoE參與腦磷脂代謝,維持了細胞間脂類的重新分布及膽固醇內(nèi)環(huán)境的穩(wěn)定。近年來的一些研究表明載脂蛋白E基因的多態(tài)性與腦血管病的發(fā)生密切相關,但又因種族、地域、年齡等因素的影響而呈現(xiàn)出各不相同的表現(xiàn)。本研究旨在評價研究云南特有少數(shù)民族佤族載脂蛋白E基因多態(tài)性與腦梗死(C1)的關系,并與漢族腦梗死患者進行對比。 研究方法:①.選擇臨滄地區(qū)4所醫(yī)院(臨滄市耿馬縣醫(yī)院、滄源縣醫(yī)院、臨滄市第二人民醫(yī)院、云縣縣醫(yī)院)經(jīng)頭顱CT確診的佤族腦梗死(C1)患者54例,進行載脂蛋白E (ApoE)基因的多態(tài)性分析,選取的患者均為佤族;發(fā)病年齡在40歲至80歲之間;男性患者28人,女性患者26人,平均年齡(59.00±7.75)歲。選擇佤族健康人群56例為正常對照組,其中男性27人,女性29人,平均年齡(56.64±8.29)歲;選擇55例漢族腦梗死患者為漢族腦梗死組,其中男性27人,女性28例,平均年齡(56.96±8.29)歲。②采用聚合酶鏈式反應(Polymerase chain reaction, PCR)對載脂蛋白E基因多態(tài)性進行分析。③對樣本進行基因正反向測序檢驗。④對結果分別進行病例組與正常對照組、病例組與漢族腦梗死、不同組之間血脂分別進行對照。 結果:1.在佤族腦梗死中ε3的基因頻率為69,占63.9%,其次是ε4為35,占32.4%,ε2為4,占3.7%;漢族腦梗死中ε3的基因頻率為64,占58.2%,其次是ε4為40,占36.4%,ε2為6,占5.5%;在佤族正常對照組中,ε3為98,占87.5%,其次是ε4為11,占9.8%,ε2為3,占2.8%。三組之間進行等位基因頻率的卡方檢驗,X2=23.64,P0.01,有統(tǒng)計學意義,差異顯著。佤族腦梗死與漢族腦梗死對照組比較,X2=0.38,P0.05,沒有統(tǒng)計學意義,等位基因無差異。佤族腦梗死組與佤族正常對照組間進行比較,X2=16.96,P0.01,有統(tǒng)計學意義,有顯著差異性。 2.等位基因ε2、ε3、ε4攜帶的膽固醇、甘油三酯及低密度脂蛋白不相同,三組間進行方差分析,P0.050,差異有統(tǒng)計學意義。兩組間兩兩比較:ε2與ε3進行比較P0.050,有統(tǒng)計學意義,ε2攜帶的TG均比ε3攜帶的高,ε3攜帶的LDL-C比ε2高;ε2與ε4進行對比,P0.010,有統(tǒng)計學意義,差異顯著。其中ε4攜帶的TC及LDL-C均高于ε2,ε2攜帶的TG高于ε4:ε3與ε4進行比較,P0.010,有統(tǒng)計學意義,差異具有顯著性,其中ε4攜帶的TC及LDL-C高于ε3,ε3攜帶的TG高于ε4。 結論:1.本實驗針對云南特有少數(shù)民族佤族腦梗死人群進行研究,佤族腦梗死發(fā)病年齡多集中在40至80歲之間,男女人群發(fā)病率未見明顯差異,此分布特征與國內(nèi)、國際的相關研究類似。 2.云南特有少數(shù)民族佤族ApoE基因多態(tài)性與腦梗死關系密切,ε4等位基因是腦梗死遺傳易感基因,同時也是漢族腦梗死遺傳易感基因,ε3等位基因可能是腦梗死的保護基因,佤族腦梗死和漢族腦梗死之間ApoE基因多態(tài)性無明顯的差別。 3.通過基因測序可以發(fā)現(xiàn):佤族的基因長度、位置及基因序列與漢族人群未見明顯差異。 4. ApoE基因多態(tài)性影響血脂水平,通過引起血脂代謝紊亂而增加腦梗死發(fā)病危險性。
[Abstract]:Background: cerebral infarction (C1) is a group of multiple risk factors for disease, possible genetic polymorphism is one of the pathogenesis of cerebral infarction. Apolipoprotein E (Apolipoprotein E ApoE) some lipoprotein mainly exists in plasma, is a kind of directly involved in cholesterol metabolism by low density glycoprotein. Lipoprotein (LDL) receptor and low density lipoprotein receptor related protein (LRP) involved in lipid metabolism and regulation of cholesterol homeostasis, the influence of the concentration of.ApoE in the brain of adult blood phospholipid metabolism, maintain cholesterol redistribution and intercellular lipid homeostasis. Some recent studies have shown that polymorphisms and cerebrovascular load apolipoprotein E gene is closely related to the occurrence of the disease, but also because of race, region, age and other factors influence the different performance. The purpose of this study is to evaluate the research of Yunnan minority nationalities wa The relationship between the polymorphism of the apolipoprotein E gene and the cerebral infarction (C1) was compared with the Han patients with cerebral infarction.
Research methods: 1. Select 4 hospitals in Lincang area (Lincang Gengma county hospital, Cangyuan county hospital, the second people's Hospital of Lincang Yunxian County, the county hospital) diagnosed by brain CT of the cerebral infarction (C1) patients with 54 cases of apolipoprotein E (ApoE) gene polymorphism analysis, selection of patients for wa the age of onset; between 40 and 80 years old; 28 male patients, 26 female patients, mean age (59 + 7.75) years old. 56 cases of healthy crowd wa as normal control group, including 27 males, 29 females, mean age (56.64 + 8.29) years; 55 cases of cerebral infarction in Han nationality Han patients with cerebral infarction group, 27 males, 28 females, mean age (56.96 + 8.29) years old. The polymerase chain reaction (Polymerase chain reaction, PCR) on apolipoprotein E gene polymorphism analysis. The sample of this gene is the reverse sequencing test. Results the case group and the normal control group, the case group and the Han cerebral infarction, the blood lipids were compared between the different groups.
Results: 1. in the wa epsilon in gene frequency of 3 cerebral infarction was 69, accounting for 63.9%, followed by 4 to 35, accounting for 32.4%, 2 to 4, accounting for 3.7%; Han CI epsilon in gene frequency of 3 to 64, accounting for 58.2%, followed by 4 to 40, accounting for 36.4%, 6 E 2, accounting for 5.5%; in the control group, 3 of 98, accounting for 87.5%, followed by 4 to 11, accounting for 9.8%, epsilon 2 is 3, accounted for the allele frequencies of 2.8%. between the three groups by chi square test, X2=23.64, P0.01, have statistical significance, the difference was significant. The cerebral infarction and the Han nationality cerebral infarction control group, X2=0.38, P0.05, no statistical significance, no difference in allele. Compared to the normal control group and cerebral infarction group the X2=16.96, P0.01, have statistical significance, there are significant differences.
2.絳変綅鍩哄洜蔚2,蔚3,蔚4鎼哄甫鐨勮儐鍥洪唶,鐢樻補涓夐叝鍙婁綆瀵嗗害鑴傝泲鐧戒笉鐩稿悓,涓夌粍闂磋繘琛屾柟宸垎鏋,
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