三种肿瘤易感性相关基因在韩国人中的多态性分析  

Genetic polymorphisms of three kinds of tumor susceptibility gene in Korean

作　　者：卢焕俊 洪润哲 许青松[1] 

机构地区：[1]延边大学医学院生理学与病理生理学教研部,吉林延吉133002 [2]韩国首尔大学医学科大学预防医学教研室,韩国首尔110799

出　　处：《中国实验诊断学》2015年第12期2039-2042,共4页Chinese Journal of Laboratory Diagnosis

摘　　要：目的调查疾病易感性相关的髓过氧化酶(MPO)、人类8-羟基鸟嘌呤糖苷酶(hOGG1)、锰超氧化物歧化酶(MnSOD)基因多态性在韩国人群中的分布状况。方法采用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)技术分别分析300名韩国健康男女大学生的MPO基因启动子区-463bp位点、hOGG1基因第7外显子第1245位碱基C/G、MnSOD基因1183位点T/C的单核苷酸多态性—M-4,计算基因型和基因频率。结果 MPO基因型频率为G/G型80.3%、G/A型19.0%、A/A型0.7%,基因频率为G 0.898、A 0.102。hOGG1基因型频率为Ser/Ser型24.7%、Ser/Cys型45.0%、Cys/Cys型30.3%,基因频率为Ser 0.472、Cys 0.528。MnSOD基因型频率为Val/Val型77.0%、Val/Ala型21.3%、Ala/Ala型1.7%,基因频率为Val 0.877、Ala 0.123。结论韩国人的疾病易感相关基因型分布均符合Hardy-Weinberg平衡定律且与我国人口较为接近。Objective This is an investigation on the polymorphism distribution of genes related with cancer susceptibility,such as MPO gene,hOGG1 gene and MnSOD gene among the Korean public.Methods The techniques of polymerase chain reaction-restriction fragment length polymorphism were adopted.The authors analyzed the single nucleotide polymorphisms in MPO gene promoter region-463 bp site,hOGG1 gene 7th exon 1245 th base C/G and MnSOD gene 1183 th base T/C,evaluate the gene types and calculate their frequencies in 300 healthy university students.Results The MPO genotype frequencies for types of G/G,G/A and A/A are 80.3%,19.0%,and 0.7% respectively,with the allele frequencies 0.898 for G and 0.102 for A.The hOGG1 genotype frequencies for types of Ser/Ser,Ser/Cys and Ser/Cys are 24.7%,45.0%,and 30.3% respectively,with the allele frequencies 0.472 for Ser and 0.528 for Cys.The MnSOD genotype frequencies for types of Val/Val,Val/Ala and Ala/Ala are 77.0%,21.3%,and 1.7% respectively,with the allele frequencies 0.877 for Val and 0.123 for Ala.Conclusion The polymorphism distribution of genes related with cancer susceptibility matched the equilibrium law of Hardy-Wdinberg,which is similar to the distribution of those in Chinese.

关 键 词：遗传多态性 MPO基因 hOGG1基因 MnSOD基因 韩国人 

分 类 号：R730.4[医药卫生—肿瘤]