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目的:分析对于细胞生长和凋亡的调节具重大意义的Caspase(天冬氨酸蛋白酶)家族基因中Caspase 9的基因的编码cSNP多态性以及探讨其基因位点突变与肿瘤发生的关系。方法:收集我院在2012年1月~2013年1月间行健康体检23人抽血样本和同时期诊治的各类癌症病人23个血液样本,并提取Caspase 9基因DNA,通过PCR使基因大量地扩增,将基因分为健康组(基因来自健康人群)和观察组(基因源于癌症病人),采用微点阵对比分析两组Caspase 9基因的cSNP位点的差异情况。结果:由分析结果知,组间rs2308938以及rs2308941两位点的基因型频率(GF)与等位基因频率(AF)具显著差异(P<0.05),与文献的结果相符合。结论:rs2308938以及rs2308941作为编码区基因的两个关键的位点,其GF和AF对于肿瘤的发生具有重要的作用,与健康基因相比,其突变率越高,则越易导致肿瘤发生。
OBJECTIVE: To analyze the cSNP polymorphism of Caspase 9 gene in Caspase (caspase) family gene, which is of great significance for the regulation of cell growth and apoptosis, and to explore the relationship between the gene mutation and tumorigenesis. Methods: Twenty-three blood samples of 23 cancer patients and 23 cancer patients of the same period were collected from January 2012 to January 2013 in our hospital. DNA of Caspase 9 gene was extracted and gene was amplified by PCR The genes were divided into healthy group (genes from healthy population) and observation group (derived from cancer patients). The difference of cSNP loci between two groups of Caspase 9 genes was analyzed by micro-dot matrix. Results: The results showed that there was a significant difference (P <0.05) between genotype frequency (GF) and allele frequency (AF) of rs2308938 and rs2308941 between the two groups, which accorded with the results of the literature. CONCLUSIONS: rs2308938 and rs2308941 are two key sites of coding region genes. GF and AF play an important role in tumorigenesis. The higher mutation rate of rs2308938 and rs2308941 than the healthy genes, the more prone to tumorigenesis.