施南锋, 虞建锋, 陈国华, 叶建杰, 李海明. 慈溪市常见恶性肿瘤与代谢酶基因多态性关系的研究[J]. 疾病监测, 2007, 22(12): 838-842. DOI: 10.3784/j.issn.1003-9961.2007.12.838
引用本文: 施南锋, 虞建锋, 陈国华, 叶建杰, 李海明. 慈溪市常见恶性肿瘤与代谢酶基因多态性关系的研究[J]. 疾病监测, 2007, 22(12): 838-842. DOI: 10.3784/j.issn.1003-9961.2007.12.838
SHI Nan-feng, YU Jian-feng, CHEN Guo-hua , . Statistical analysis of polymorphism of metabolic enzyme gene in common malignant tumor patients in Cixi City[J]. Disease Surveillance, 2007, 22(12): 838-842. DOI: 10.3784/j.issn.1003-9961.2007.12.838
Citation: SHI Nan-feng, YU Jian-feng, CHEN Guo-hua , . Statistical analysis of polymorphism of metabolic enzyme gene in common malignant tumor patients in Cixi City[J]. Disease Surveillance, 2007, 22(12): 838-842. DOI: 10.3784/j.issn.1003-9961.2007.12.838

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 patients in Cixi City

  • 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231 bp的片段,非GSTF1缺陷型有120 bp的片段,而所有的样品都有268 bp的-球蛋白的DNA片段.CYP2E1基因第1019CT点突变使RsaI识别位点消失,CYP2E1基因第1259GC点突变产生RsaI识别位点.CYP2EIRsaI CC,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%,CYP2E1PstI GG,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CYP2E1PstI野生型(GG基因型)作为参照,CYP2E1RsaI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,GSTF1,CYP2E1RsaI,CYP2E1PstI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.

     

    Abstract: Objective The present research was conducted to understand the relationship between common malignant tumors and the polymorphisms of metabolic enzyme gene among residents in CixiCity. 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 wasextracted by improved salt fractionation and subscribed to polymorphism assay. Results A 231bpfragment 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. Mutationof 1019CT in CYP2E1 gene abolished RsaI recognition site and that of 1259GC in CYP2E1 generesulted in a new PstI recognition site. Distribution frequency of CYP2E1RsaCC, CT, TT were64.0%, 35.0% and 1.0% respectively, while CYP2E1PstGG, GC, CC CYP2E1PstGG, GC, CC were70.0%, 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 GSTT1 defect with commonmalignant tumors. Compared with wild type CYP2E1Pst (GG gene phenotype), CYP2E1Pstheterotype (GC phenotype) high frequency was related to high risk of tumor occurrences, with the Orvalues being 1.11 (95%CI:0.61-2.03). Conclusion Distribution of polymorphism of metabolic enzymegenes GSTM1, GSTT1, CYP2E1Rsaand CYP2E1Pstin healthy adults in Cixi City was inconcordance 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.

     

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