慈溪市常见恶性肿瘤与代谢酶基因多态性关系的研究  

Statistical analysis of polymorphism of metabolic enzyme gene in common malignant tumor patientsin Cixi City

作　　者：施南锋[1] 虞建锋[1] 陈国华[1] 叶建杰[1] 李海明[1] 

机构地区：[1]浙江省慈溪市疾病预防控制中心,浙江慈溪315300

出　　处：《疾病监测》2007年第12期838-842,共5页Disease Surveillance

基　　金：慈溪市科技局;项目编号:R2004001

摘　　要：目的探讨慈溪市居民常见恶性肿瘤与代谢酶基因多态性关系。方法分层随机抽取108对研究对象,总计216例血样,剔除不合格研究对象,最后有100对配对个体共200例研究对象完成基因型的检测。采用DNA抽提采用改良盐析法和基因多态性检测。结果非GSTM1缺陷型有231bp的片段,非GSTT1缺陷型有120bp的片段,而所有的样品都有268bp的β-球蛋白的DNA片段。CYP2E1基因第1019C→T点突变使RsaΙ识别位点消失,CYP2E1基因第1259G→C点突变产生RsaΙ识别位点。CYP2E1RsaΙCC,CT,TT基因型分布在对照人群中的频率分别为64.0%,35.0%和1.0%,CYP2E1PstΙGG,GC,CC基因型分布在对照人群中的频率分别为70.0%,30.0%,0.0%。GSTT1缺陷型与常见恶性肿瘤患病风险没有观察到有统计学意义的相关性效应,OR值分别为1.22(95%CI:0.70～2.13)和0.65(95%CI:0.36～1.20);以CYP2E1PstΙ野生型(GG基因型)作为参照,CYP2E1RsaΙ杂和型(GC基因型)患肿瘤的风险增高,其OR值为1.11(95%CI:0.61～2.03)。结论慈溪市正常人群中四个基因位点GSTM1,GSTT1,CYP2E1RsaΙ,CYP2E1PstΙ的多态基因型分布与国内报道基本一致,四个位点基因多态性与慈溪市常见恶性肿瘤易感性无统计学意义的关联。Objective The present research was conducted to understand the relationship between common malignant tumors and the polymorphisms of metabolic enzyme gene among residents in Cixi City. Methods 108 pairs of subjects were selected with stratified random sampling with a total of 216 whole peripheral blood samples collected. After exclusion of the unqualified samples, a total of 200 matched samples from 100 pairs of subjects were used for the gene polymorphism assay. DNA was extracted by improved salt fractionation and subscribed to polymorphism assay. Results A 231bp fragment was found in the non-GSTM1 defect phenotype samples and a 120 bp fragment in non- GSTT1 defect phenotype ones, with a 268 bp fragment of beta-globulin seen in all samples. Mutation of 1019C→T in CYP2E1 gene abolished RsaI recognition site and that of 1259G→C in CYP2E1 gene resulted in a new PstI recognition site. Distribution frequency of CYP2E1RsaI CC, CT, TT were 64.0%, 35.0% and 1.0% respectively, while CYP2E1PstI GG, GC, CC CYP2E1PstI GG, GC, CC were 70.0%, 30.0% and 0.0%, respectively. The OR values were 1.22（95%CI：0.70-2.13）, 0.65（95%CI：0.36- 1.20） respectively, with no statistically significant correlation between GST＇I＇I defect with common malignant tumors. Compared with wild type CYP2E1PstI （GG gene phenotype）, CYP2E1PstI heterotype （GC phenotype） high frequency was related to high risk of tumor occurrences, with the OR values being 1.11 （95%CI：0.61-2.03）. Conclusion Distribution of polymorphism of metabolic enzyme genes GSTM1, GSTT1, CYP2E1RsaI and CYP2E1PstI in healthy adults in Cixi City was in concordance with that in reports at home. There was no statistically significant correlation between the polymorphism of four genes and the susceptibility to common malignant tumors in the city.

关 键 词：恶性肿瘤 代谢酶基因 统计分析 

分 类 号：R730.2[医药卫生—肿瘤]