19个微卫星DNA标记多态性与食管鳞状细胞癌的相关性分析

Correlation analysis between 19 microsatellite DNA marker polymorphisms with esophageal squamous cell carcinoma

目的观察并分析19个微卫星DNA遗传标记多态性与食管鳞状细胞癌(食管癌)的相关性。方法采用聚合酶链反应法结合毛细管电泳技术对2017-2018年上半年在川北医学院附属医院经病理切片证实,取材前未经放、化疗的80例食管癌患者(病例组)肿瘤组织和200例健康个体(对照组)静脉血进行19个常用微卫星DNA基因座的多态性分析,同时对照组检验基因平衡(H-W),并对2组19个微卫星DNA基因座(D3S1358、D13S317、D7S820、D16S539、PentaE、TPOX、TH01、D2S1338、CSF1PO、PentaD、VWA、D21S11、D18S51、D6S1043、D8S1179、D5D818、D12S391、FGA)等位基因频率分布的差异进行统计学分析。结果对照组研究对象19个微卫星DNA基因座位点的分布符合H-W定律;病例组患者D5S818、FGA基因座微卫星DNA多态性分布与对照组比较,差异均有统计学意义(P<0.05);病例组患者D5S818-13、FGA-20频率均明显高于对照组,差异均有统计学意义(P<0.05)。结论D5S818-13附近区域可能存在食管癌易感基因,FGA-20与食管癌相关,其附近可能存在食管癌易感基因。

Objective To observe and analyze the correlation between the polymorphisms of 19 microsatellite DNA markers and esophageal squamous cell carcinoma.Methods The polymorphisms analysis of 19 commonly used microsatellite DNA loci in the tumor tissues from 80 cases of esophageal cancer(case group)verified by the pathological section and without chemoradiotherapy before collecting the materials and the venous blood from 200 healthy individuals(control group)in the First Affiliated Hospital of North Sichuan Medical College during 2017-2018 was performed by using PCR combined with capillary electrophoresis.Meanwhile the Hardy-Weinberg gene balance was tested in the control group,and the differences of allele frequency distribution in 19 microsatellite DNA gene loci(D3S1358,D13S317,D7S820,D16S539,Penta E,TPOX,TH01,D2S1338,CSF1PO,Penta D, VWA, D21S11, D18S51, D6S1043, D8S1179, D5D818, D12S391, FGA)between the two groups conducted the statistical analysis.Results The distribution of 19 microsatellite DNA gene loci in the control group was consistent with Hardy-Weinberg′s equilibrium law;the microsatellite DNA polymorphisms distribution at D5S818 and FGA loci had statistical difference between the case group and control group(P<0.05);the frequency of D5S818-13 and FGA-20 in the case group was significantly higher than that in the control group,and the difference was statistically significant(P<0.05).Conclusion There may be esophageal cancer susceptibility genes in the vicinity area of D5S818-13;FGA-20 is correlated with esophageal cancer,and esophageal cancer susceptibility genes may exist in its near area.