PKD1基因与抑癌基因P53多态性与非综合征性唇腭裂的关联研究

Association between Pkd1, Anti-oncogene p53 Gene Polymorphism and Nonsyndromic Cleft Lip with or without Cleft Palate

目的:探讨多囊性肾病基因1(polystic kidney disease,PKD1)多态位点rs8049367与抑癌基因P53(anti-oncogene P53)多态位点rs4791774单核苷酸多态性与中国北方人群非综合征性唇腭裂(NSCL/P)的相关性。方法:运用聚合酶链式反应-连接酶检测反应(PCR-LDR)的检测方法,对602例NSCL/P患者和510例对照人群的PKD1基因的rs8049367位点和抑癌基因P53的rs4791774位点进行基因分型。利用SPSS12.0软件分析PKD1基因,抑癌基因P53多态性与NSCL/P的相关性。结果:rs8049367位点和rs4791774位点基因型及基因频率在两组的分布中差异无统计学意义(P>0.05)。结论:PKD1基因的rs8049367位点和抑癌基因P53的rs4791774位点单核苷酸多态性可能与中国北方人群非综合征性唇腭裂的发生无相关性。

Objective: To explore the association between two single nucleotide polymorphisms(SNPs)rs8049367 of pkd1 gene,rs4791774 of anti-oncogene p53 and nonsyndromic cleft lip with or without cleft palate(NSCL/P)in the northern Chinese population.Methods: Multiple PCR and multiple ligase detection reaction were used to analyze SNP rs8049367 of pkd1, SNP rs4791774 of anti-oncogene p53 in 602 NSCL/P patients and 510 healthy individuals, SPSS12.0 program was used to perform x^2 test for the associations. Results: There were no significant differences in either genotypic or alletic distribution of rs8049367, rs4791774 between the patients and the controls(P>0.05). Conclusion: The SNP of rs8049367 in pkd1 and SNP of rs4791774 in anti-oncogene p53 may be not associated with NSCL/P in the northern Chinese population.