摘要
为了深入了解蛋白激酶C-γ(PRKCG)基因rs3745406和rs2547362单核苷酸多态性与骨肉瘤易感性及其遗传机理。本研究收集了68例骨肉瘤患者及健康体检者70人为研究对象,利用PCR扩增技术比较了健康组与骨肉瘤组PPKCG基因rs3745406和rs2547362基因型频率及等位基因频率的差异,分析可导致骨肉瘤易感的相关基因群体遗传特征。研究表明,rs3745406单核酸多态性在对照组与骨肉瘤组的基因型(CC,TT,CT)及等位基因(C,T)频率分布差异(p=0.410,p=0.518)以及在其他临床因素的比较中(p>0.05)均无统计学意义,而在有转移和无转移间差异均有统计学意义(p=0.000,p=0.000);rs2547362单核酸多态性在对照组与骨肉瘤组的基因型(CC,TT,CT)及等位基因(C,T)频率分布(p=0.006,p=0.007)差异均有统计学意义,而在在各临床因素的比较中(p>0.05)均无统计学意义(p>0.05)。我们的研究表明:PPKCG基因rs2547362SNPs与骨肉瘤发生有关,PPKCG基因rs3745406的突变与骨肉瘤的转移相关。其作用机制可能是rs2547362、rs3745406 SNPs通过某种信号激活PRKCG,导致细胞核肿瘤蛋白发生磷酸化,影响了转录或翻译水平的调控,细胞的分裂通路紊乱导致骨肉瘤的发生。
The aim of this study was to deeply understand the susceptibility of osteosarcoma and genetic mechanism of SNP rs3745406 and rs2547362 of protein kinase C-γ（PRKCG）.68 patients with osteosarcoma and 70 healthy people were selected as the research object.PCR amplification method was applied to compare the difference in genotype frequency and allele frequency of rs3745406 and rs2547362 from PPKCG gene in healthy group and osteosarcoma group,so as to analyze the genetic characteristics of genes related to osteosarcoma susceptibility.The results showed that the difference of SNP rs3745406 in genotype（CC,TT,CT）,allele（C,T） frequency distribution（p =0.410,p =0.518） and other clinical factors in healthy group and osteosarcoma group had no statistical significance（p〉0.05）,but it was statistically significant between the cases with metastasis and no metastasis（p=0.000,p=0.000）.The difference of SNP rs2547362 in genotype（CC,TT,CT） and allele（C,T） frequency distribution（p=0.006,p=0.007） both had statistical significance,but the in the comparison of clinical factors,there was no statistical significance（p〉0.05）.Our study indicated that rs2547362 SNPs of PPKCG gene was related to the occurrence of osteosarcoma,and the mutation of rs3745406 of PPKCG gene was relevant to the metastasis of osteosarcoma.Its mechanism might be as follows：rs2547362 and rs3745406 SNPs activated PRKCG through a signal,causing phosphorylation of the nuclei of tumor protein,affecting the transcription and translation levels.Disorder of cell division pathway led to osteosarcoma.
出处
《基因组学与应用生物学》
CAS
CSCD
北大核心
2017年第9期3498-3505,共8页
Genomics and Applied Biology
基金
佛山市中医院
广州中医药大学研究生院共同资助
