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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。
In order to further understand the single nucleotide polymorphisms of rs3745406 and rs2547362 of the protein kinase C-γ (PRKCG) gene and the susceptibility to osteosarcoma and its genetic mechanism. In this study, 68 patients with osteosarcoma and 70 healthy subjects were collected from the study. The genotype frequency and allele frequencies of PPKCG rs3745406 and rs2547362 between healthy group and osteosarcoma group were compared by PCR amplification. Genetic characteristics of related gene populations susceptible to osteosarcoma. The results showed that rs3745406 single nucleotide polymorphism in the control group and osteosarcoma genotypes (CC, TT, CT) and allele (C, T) frequency distribution difference (p = 0.410, p = 0.518) (P = 0.000, p = 0.000). The single nucleotide polymorphism of rs2547362 in the control group was significantly higher than that in the control group The frequencies of genotypes (CC, TT, CT) and allele (C, T) in osteosarcoma group were significantly different (p = 0.006, p = 0.007) p> 0.05) were not statistically significant (p> 0.05). Our study shows that: PPKCG gene rs2547362SNPs and osteosarcoma, PPKCG gene rs3745406 mutations associated with the transfer of osteosarcoma. Its mechanism may be rs2547362, rs3745406 SNPs activate PRKCG through some signal, which leads to the phosphorylation of nuclear oncoproteins, which affects the regulation of transcription or translation. The disorder of cell division leads to the occurrence of osteosarcoma.