山西大同地区CYP1B1基因A119S、L432V位点多态性与宫颈癌的易感性研究
发布时间：2018-04-06 23:04
本文选题：CYP1B1基因 切入点：基因多态性 出处：《山西医科大学》2017年硕士论文
【摘要】：目的:本研究初步分析山西大同地区CYP1B1基因A119S、L432V位点的多态性在宫颈癌组和对照组中基因型及等位基因的频率分布情况,探讨两个多态性位点与宫颈癌是否具有相关性;进而通过对吸烟(包括被动吸烟)分层以及在不同宫颈癌细胞分化程度和病理类型的情况下分析多态性位点与宫颈癌易感性的关系。寻找宫颈癌的遗传易感因素,从而更好的预测宫颈癌的发生、发展。方法:本研究选取大同市妇幼医院收治的长期居住在大同市区及周边县区的92例宫颈癌患者为病例组,100例健康体检TCT正常的女性为对照组,病例组和对照组均为汉族人并且既往无肿瘤病史。调查受试者的年龄和吸烟情况,以及宫颈癌患者的癌细胞分化程度和病理类型。提取两样本外周血中的DNA,通过应用聚合酶链反应-限制性多态性技术(PCR-RFLP)及酶切电泳技术,分别对CYP1B1基因第2外显子和第3外显子中A119S(G-T)、L432V(C-G)多态性位点进行基因检测。应用SPSS17.0软件对检测结果进行统计学分析,采用χ2检验检测等位基因频率和基因型频率的分布差异,以α=0.05为检验水准,并以比值比(OR)及其95%可信区间(95%CI)表示相对危险度。结果:1、山西大同地区女性CYP1B1 A119S和L432V位点的基因型及等位基因频率在对照组中均符合Hardy-Weinberg平衡定律(均P0.05),具有群体代表性。2、CYP1B1 A119S基因型GG、GT、TT频率在宫颈癌组分别为55.4%、33.7%、10.9%,对照组为66.0%、29.0%、5.0%。两组间差异比较无显著性(P0.05)。等位基因G、T频率在宫颈癌组分别为72.3%和27.7%,对照组为80.5%和19.5%,两组间差异比较无显著性(P0.05)。3、CYP1B1 L432V基因型CC、CG、GG频率在宫颈癌组分别为50.0%、38.0%、12.0%,对照组为70.0%、25.0%、5.0%,两组比较差异有统计学意义(P0.05);并且突变纯合子GG、杂合子CG与CC基因型相比,患宫颈癌的危险性分别是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频率在宫颈癌组分别为69.0%和31.0%,对照组为82.5%和17.5%,两组比较差异有统计学意义(P0.05);其中等位基因G患宫颈癌的风险是C的2.12倍(95%CI=1.03,3.42)。4、在吸烟(包括被动吸烟)的情况下,CYP1B1 L432V含等位基因G的基因型使宫颈癌的发生风险增加了1.31倍(95%CI=1.08,4.95),宫颈癌组及对照组间比较差异有统计学意义(P0.05);而不吸烟组中,两组间基因型比较差异无统计学意义(P0.05)。5、在宫颈癌细胞的不同分化程度及其不同病理类型中,CYP1B1L432V多态性位点基因型与对照组相比,差异均无统计学意义(P0.05)。结论:1、CYP1B1基因L432V(C-G)的多态性与山西大同地区宫颈癌的易感性有关,可能与A119S(G-T)位点多态性无关。2、在CYP1B1基因L432V(C-G)的多态性中含突变等位基因G的基因型增加了宫颈癌的发病风险,并且等位基因G的比例越高,患宫颈癌的风险越大。3、吸烟(包括被动吸烟)并且携带CYP1B1基因L432V位点中含G的基因型,增加宫颈癌的发病风险。4、CYP1B1基因L432V(C-G)多态性与宫颈癌细胞的分化程度及病理类型无关。
[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 缁勫垎鍒负55.4%,33.7%,10.9%,瀵圭収缁勪负66.0%,29.0%,5.0%.涓ょ粍闂村樊寮傛瘮杈冩棤鏄捐憲鎬，
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