Caspase 9基因单核苷酸多态性与肿瘤易感性的关系研究  

A Study on the Polymorphism Distribution of Caspase 9 Gene with the Susceptibility of Cancer

作　　者：叶崇琪[1] 段巨涛[1] 薛小平[1] 罗彦英[1] 杨秀竹[1] 李继坤[1] 倪虹[2] 

机构地区：[1]天津市南开医院外四科,300100 [2]南开大学医学院病理生理研究室

出　　处：《天津医药》2008年第6期420-422,共3页Tianjin Medical Journal

基　　金：天津市卫生局科技基金(项目编号:04KZ18)

摘　　要：目的:探讨细胞凋亡通路组成关键基因Caspase 9上cSNP位点多态性与肿瘤易感性的关系。方法:经PCR扩增后,以cDNA微阵列检测分析了33例肿瘤患者(肿瘤组)和33例健康体检者(对照组)Caspase 9基因上9个cSNP位点的基因型及等位基因频率分布的差异。结果:统计学分析发现rs2308941和rs2308938位点基因型及等位基因频率在肿瘤组与对照组间差异有统计学意义(均P<0.01),其他等位基因频率在肿瘤组与对照组间差异无统计学意义(均P>0.05)。结论:Caspase 9基因rs2308941和rs2308938位点突变基因型升高可能导致肿瘤发生的风险性增加。Objective： To explore the relationship between susceptibility of cancer and single nucleotide polymorphism （SNP） distribution of caspase 9 （CASP9） as the key role in the apoptosis pathway. Methods： Genotypes and allele frequency in 33 cancer patients （tumor group） and 33 normal people （control group） were analyzed by a eDNA chip which included 9 cSNPs of caspase 9. Results： In comparison with control group, the genotypes and allele frequency of rs2308941 and rs2308938 gene had a significant difference between two groups （P 〈 0.01 ）,and the other cSNPs had no significant difference between two groups. Conclusion： rs2308941 and rs2308938 located in CASP9 gene are associated with susceptibility of cancer.

关 键 词：肿瘤 疾病易感性 半胱氨酸天冬氨酸蛋白酶 多态性 单核苷酸 基因型 基因频率 

分 类 号：R446.11[医药卫生—诊断学] R329.28[医药卫生—临床医学]