本文關(guān)鍵詞： 高血壓 鉀通道 單核苷酸多態(tài)性 哈薩克族　出處：《石河子大學(xué)》2016年碩士論文　論文類(lèi)型：學(xué)位論文

【摘要】：目的:探討新疆哈薩克族人群原發(fā)性高血壓與內(nèi)向整流鉀離子通道蛋白J亞單位11號(hào)成員(KCNJ11)和大電導(dǎo)鈣激活鉀通道β1亞基(KCNMB1)基因多態(tài)性的關(guān)聯(lián)。方法:(1)用血液基因組DNA提取試劑盒提取新疆哈薩克族267例原發(fā)性高血壓(essential hypertension,EH組)患者和259例血壓正常(normotensive group,NT組)者血液中的基因組DNA。(2)采用限制性片段長(zhǎng)度多態(tài)性聚合酶鏈?zhǔn)椒磻?yīng)(PCR-RFLP)檢測(cè)KCNJ11-rs5219、KCNJ11-rs2285676和KCNMB1-rs1739136多態(tài)性的基因型。(3)通過(guò)PCR產(chǎn)物直接測(cè)序法驗(yàn)證基因分型結(jié)果。(4)采用Hardy-Weinberg平衡檢測(cè)研究人群是否具有群體代表性。(5)用Excel建立數(shù)據(jù)庫(kù),所有數(shù)據(jù)均應(yīng)用SPSS 17.0軟件包進(jìn)行統(tǒng)計(jì)分析,并通過(guò)非條件Logistic回歸分析評(píng)價(jià)新疆哈薩克族原發(fā)性高血壓易感基因。結(jié)果:(1)KCNMB1(rs11739136)和KCNJ11(rs2285676、rs5219)多態(tài)性位點(diǎn)基因型頻率在新疆哈薩克族人群中的分布符合Hardy-Weinberg平衡定律(P0.05),具有一定的群體代表性。(2)EH組KCNJ11-rs2285676 CC、(CT+TT)基因型與C、T等位基因頻率分別是4.12%、95.88%、28.65%和71.35%,與NT組比較,兩組間無(wú)統(tǒng)計(jì)學(xué)差異(P0.05)。(3)KCNMB1-rs11739136 CC、(CT+TT)基因型與C、T等位基因頻率分別是70.04%、29.96%、82.58%和17.42%,與NT組比較,兩組間無(wú)統(tǒng)計(jì)學(xué)差異(P0.05)。(4)EH組KCNJ11-rs5219 GG、(GA+AA)基因型和G、A等位基因頻率分別為34.83%、65.17%、61.42%和38.58%,與NT組比較,兩組間差異有統(tǒng)計(jì)學(xué)意義(P0.05)。攜帶rs5219-GG基因型個(gè)體患高血壓的風(fēng)險(xiǎn)是攜帶(GA+AA)基因型的2.08倍(95%CI:1.40-3.08);攜帶rs5219-G等位基因個(gè)體患高血壓的風(fēng)險(xiǎn)是攜帶A等位基因的1.68倍(95%CI:1.32-2.15)。(5)非條件Logistic回歸分析顯示BMI(OR=1.09)和KCNJ11-rs5219-GG基因型(OR=2.15)是影響新疆哈薩克族原發(fā)性高血壓的危險(xiǎn)因素。結(jié)論:(1)KCNMB1-rs11739136和KCNJ11-rs2285676多態(tài)性可能與新疆哈薩克族原發(fā)性高血壓無(wú)關(guān)。(2)KCNJ11-rs5219多態(tài)性可能與新疆哈薩克族原發(fā)性高血壓之間存在一定關(guān)聯(lián),攜帶GG基因型可能是原發(fā)性高血壓發(fā)病的危險(xiǎn)因素。
[Abstract]:Objective: to investigate the association between essential hypertension (EH) and polymorphism of KCNJ11 and KCNMB1 gene in Xinjiang Kazakh population. Extraction of Genomic DNA from Blood of 267 Kazakh patients with essential Hypertension EH and 259 patients with normal Blood pressure (n = 259, normotic Group NT) from Xinjiang Kazak by DNA extraction Kit) using restriction fragment length Polymorphic Polymorphic Polymerase chain reaction (PCR-RFLP). The genotypes of KCNJ11-rs5219- KCNJ11-rs2285676 and KCNMB1-rs1739136 polymorphism were detected. The genotypes of KCNJ11-rs2285676 and KCNJ11-rs2285676 were detected by direct sequencing of PCR products. All the data were analyzed by SPSS 17.0 software package. Logistic regression analysis was used to evaluate the susceptibility to essential hypertension of Kazak nationality in Xinjiang. Results the genotypes of KCNMB1rs11739136) and KCNJ1155676 (rs5219) in Xinjiang Kazakh population were in accordance with the Hardy-Weinberg equilibrium law (P0.05). The frequency of KCNJ11-rs2285676 CCT TT genotype and CTT allele were 4.12% and 95.88% in EH group and 71.35% in NT group, respectively, compared with NT group. There was no significant difference between the two groups in the frequencies of alleles of KCNJ11-rs5219 GGMB-1-rs11739136 CCT (82.58% and 17.42%, respectively), compared with NT group (P 0.055.4EH group), and the frequencies of KCNJ11-rs5219 GGMB1-rs11739136 CCT alleles were 34.83335.171.42% and 38.58%, respectively, compared with the NT group, there was no statistical difference between the two groups. The risk of hypertension in individuals with rs5219-GG genotype was 2.08 times as high as that of GA A genotype, 95% CI: 1.40-3.08%, and 1.68 times that of A allele was 1.68 times higher than that of A allele, and the risk of hypertension was 1.68 times higher than that of A allele. Logistic regression analysis showed that BMIA ORA 1.09) and KCNJ11-rs5219-GG genotype OR2.15) were the risk factors affecting essential hypertension in Kazak nationality of Xinjiang. Conclusion the polymorphism of KCNMB1-rs11739136 and KCNJ11-rs2285676 may not be related to essential hypertension in Xinjiang Kazak nationality. The polymorphism of KCNJ11-rs5219 may be associated with Xinjiang Kazakh nationality. There is a certain association between essential hypertension in the Sark nationality, Carrying GG genotype may be a risk factor for essential hypertension.
【學(xué)位授予單位】：石河子大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2016
【分類(lèi)號(hào)】：R544.11
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本文編號(hào)：1521552