蛋白激酶C-γ基因单核苷酸多态性位点rs3745406和rs2547362的基因型及等位基因频率分析

发布时间：2018-03-23 00:00

本文选题：骨肉瘤　切入点：单核酸多态性　出处：《基因组学与应用生物学》2017年09期 　论文类型：期刊论文

【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(p0.05)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(p0.05)均无统计学意义(p0.05)。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。
[Abstract]:In order to understand the relationship between rs3745406 and rs2547362 single nucleotide polymorphisms and susceptibility and genetic mechanism of osteosarcoma, 68 patients with osteosarcoma and 70 healthy controls were studied in this study. The frequencies of rs3745406 and rs2547362 genotypes and alleles of PPKCG gene were compared between healthy and osteosarcoma groups by PCR amplification technique. To analyze the genetic characteristics related to the susceptibility of osteosarcoma. The results showed that the frequency distribution of rs3745406 single nucleic acid polymorphism in the control group and the osteosarcoma group was different in the genotype CCTTT (CTT) and the alleles of the alleles (P < 0. 410p0. 518), as well as in other clinical factors. There was no significant difference between the two groups. However, there were statistically significant differences between metastatic and non-metastatic groups in rs2547362 single nucleotide polymorphisms in the control group and osteosarcoma group. There were significant differences in the frequency distribution of the genotype CCTT and the allele CT-T) between the control group and the osteosarcoma group (P 0.006, P 0.007), and there was a significant difference in the frequency distribution of rs2547362 between the control group and the osteosarcoma group. However, there was no significant difference between p0.05) in the comparison of clinical factors. Our study shows that the mutation of rs3745406 in the PPKCG gene is related to the occurrence of osteosarcoma, and the mechanism may be that rs2547362rs3745406 SNPs passes through a certain type of osteosarcoma, which is related to the occurrence of osteosarcoma and the mutation of PPKCG gene rs3745406 is related to the metastasis of osteosarcoma. The signal activates PRKCGs and results in phosphorylation of nuclear tumor proteins. Affecting the regulation of transcription or translation, the disorder of cell division pathway leads to the occurrence of osteosarcoma.
【作者单位】：佛山市中医院;广州中医药大学;
【基金】：佛山市中医院广州中医药大学研究生院共同资助
【分类号】：R738.1

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