本文選題：CYP1B1基因　切入點(diǎn)：基因多態(tài)性　出處：《山西醫(yī)科大學(xué)》2017年碩士論文

【摘要】：目的:本研究初步分析山西大同地區(qū)CYP1B1基因A119S、L432V位點(diǎn)的多態(tài)性在宮頸癌組和對(duì)照組中基因型及等位基因的頻率分布情況,探討兩個(gè)多態(tài)性位點(diǎn)與宮頸癌是否具有相關(guān)性;進(jìn)而通過(guò)對(duì)吸煙(包括被動(dòng)吸煙)分層以及在不同宮頸癌細(xì)胞分化程度和病理類(lèi)型的情況下分析多態(tài)性位點(diǎn)與宮頸癌易感性的關(guān)系。尋找宮頸癌的遺傳易感因素,從而更好的預(yù)測(cè)宮頸癌的發(fā)生、發(fā)展。方法:本研究選取大同市婦幼醫(yī)院收治的長(zhǎng)期居住在大同市區(qū)及周邊縣區(qū)的92例宮頸癌患者為病例組,100例健康體檢TCT正常的女性為對(duì)照組,病例組和對(duì)照組均為漢族人并且既往無(wú)腫瘤病史。調(diào)查受試者的年齡和吸煙情況,以及宮頸癌患者的癌細(xì)胞分化程度和病理類(lèi)型。提取兩樣本外周血中的DNA,通過(guò)應(yīng)用聚合酶鏈反應(yīng)-限制性多態(tài)性技術(shù)(PCR-RFLP)及酶切電泳技術(shù),分別對(duì)CYP1B1基因第2外顯子和第3外顯子中A119S(G-T)、L432V(C-G)多態(tài)性位點(diǎn)進(jìn)行基因檢測(cè)。應(yīng)用SPSS17.0軟件對(duì)檢測(cè)結(jié)果進(jìn)行統(tǒng)計(jì)學(xué)分析,采用χ2檢驗(yàn)檢測(cè)等位基因頻率和基因型頻率的分布差異,以α=0.05為檢驗(yàn)水準(zhǔn),并以比值比(OR)及其95%可信區(qū)間(95%CI)表示相對(duì)危險(xiǎn)度。結(jié)果:1、山西大同地區(qū)女性CYP1B1 A119S和L432V位點(diǎn)的基因型及等位基因頻率在對(duì)照組中均符合Hardy-Weinberg平衡定律(均P0.05),具有群體代表性。2、CYP1B1 A119S基因型GG、GT、TT頻率在宮頸癌組分別為55.4%、33.7%、10.9%,對(duì)照組為66.0%、29.0%、5.0%。兩組間差異比較無(wú)顯著性(P0.05)。等位基因G、T頻率在宮頸癌組分別為72.3%和27.7%,對(duì)照組為80.5%和19.5%,兩組間差異比較無(wú)顯著性(P0.05)。3、CYP1B1 L432V基因型CC、CG、GG頻率在宮頸癌組分別為50.0%、38.0%、12.0%,對(duì)照組為70.0%、25.0%、5.0%,兩組比較差異有統(tǒng)計(jì)學(xué)意義(P0.05);并且突變純合子GG、雜合子CG與CC基因型相比,患宮頸癌的危險(xiǎn)性分別是3.35倍(95%CI=1.09,10.27,P0.05)和2.13倍(95%CI=1.13,4.02,P0.05)。等位基因C、G頻率在宮頸癌組分別為69.0%和31.0%,對(duì)照組為82.5%和17.5%,兩組比較差異有統(tǒng)計(jì)學(xué)意義(P0.05);其中等位基因G患宮頸癌的風(fēng)險(xiǎn)是C的2.12倍(95%CI=1.03,3.42)。4、在吸煙(包括被動(dòng)吸煙)的情況下,CYP1B1 L432V含等位基因G的基因型使宮頸癌的發(fā)生風(fēng)險(xiǎn)增加了1.31倍(95%CI=1.08,4.95),宮頸癌組及對(duì)照組間比較差異有統(tǒng)計(jì)學(xué)意義(P0.05);而不吸煙組中,兩組間基因型比較差異無(wú)統(tǒng)計(jì)學(xué)意義(P0.05)。5、在宮頸癌細(xì)胞的不同分化程度及其不同病理類(lèi)型中,CYP1B1L432V多態(tài)性位點(diǎn)基因型與對(duì)照組相比,差異均無(wú)統(tǒng)計(jì)學(xué)意義(P0.05)。結(jié)論:1、CYP1B1基因L432V(C-G)的多態(tài)性與山西大同地區(qū)宮頸癌的易感性有關(guān),可能與A119S(G-T)位點(diǎn)多態(tài)性無(wú)關(guān)。2、在CYP1B1基因L432V(C-G)的多態(tài)性中含突變等位基因G的基因型增加了宮頸癌的發(fā)病風(fēng)險(xiǎn),并且等位基因G的比例越高,患宮頸癌的風(fēng)險(xiǎn)越大。3、吸煙(包括被動(dòng)吸煙)并且攜帶CYP1B1基因L432V位點(diǎn)中含G的基因型,增加宮頸癌的發(fā)病風(fēng)險(xiǎn)。4、CYP1B1基因L432V(C-G)多態(tài)性與宮頸癌細(xì)胞的分化程度及病理類(lèi)型無(wú)關(guān)。
[Abstract]:Objective: to analyze the CYP1B1 gene A119S region of Shanxi Datong this study, frequency distribution of L432V polymorphism in cervical cancer group and control group in genotype and allele, investigate whether the two polymorphisms and cervical cancer has correlation; then the smoking (including passive smoking) and hierarchical analysis of the relationship between polymorphism polymorphism and susceptibility to cervical cancer in different cervical cancer cell differentiation and pathological conditions. Genetic susceptibility factors for cervical cancer, cervical cancer in order to better predict the occurrence, development. Methods: This study selected from long-term residence in Datong maternity hospital in 92 cases of cervical cancer patients in Datong City and surrounding areas the county as the case group, TCT normal healthy women 100 cases as control group, the case group and the control group were Han people and had no history of cancer. The survey subjects were age and smoking Smoke, and cervical cancer patients with cancer cell differentiation and pathological types. The extraction of two samples of peripheral blood in DNA by restriction technique of polymorphism by polymerase chain reaction (PCR-RFLP) technique and enzyme digestion, respectively. The CYP1B1 gene exon second and exon third in A119S (G-T) L432V, (C-G) polymorphisms were detected with SPSS17.0 software. Statistical analysis of test results, distribution of 2 test was used in detection of allele and genotype frequencies, to test the level of a =0.05, and the odds ratio (OR) and its 95% confidence interval (95%CI) said the relative risk. Results: 1, area of Shanxi Datong female CYP1B1 A119S and L432V loci genotype and allele frequencies were consistent with the Hardy-Weinberg equilibrium in the control group (P0.05), has the group representative.2 CYP1B1 A119S for type GG, GT, TT frequency in cervical cancer 緇勫垎鍒負(fù)55.4%,33.7%,10.9%,瀵圭収緇勪負(fù)66.0%,29.0%,5.0%.涓ょ粍闂村樊寮傛瘮杈冩棤鏄捐憲鎬，

本文編號(hào)：1719287