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目的检测分析单核苷酸多态(SNP)位点在圆锥动脉干畸形患者和正常人群中的分布情况,以及与所构成单倍型与圆锥动脉干畸形的相关性。方法应用聚合酶链反应-限制性片段长度多态性方法分析130例圆锥动脉干畸形患者及200名正常人3个SNP位点基因型;应用列联表法统计分析患者组和对照组各SNP位点基因型及等位基因频率;应用PHASE软件构建单倍型并统计分析患者组及对照组单倍型频率是否存在差异。结果G2963A位点等位基因频率及基因型频率在患者组和对照组中的分布差异显著,患者组G等位基因频率明显高于对照组(χ2=8·14,P<0·005);单倍型分析可见4种单倍型在患者组和对照组中的分布频率差异有统计学意义(χ2=22·39P<0·005):G2857/G2963/A6571和G2857/G2963/T6571为人群中常见单倍型。患者组中G2857/G2963/A6571、C2857/A2963/T6571两种单倍型频率较对照组高。结论TBX1基因编码区的SNP位点G2963A与圆锥动脉干畸形有明显的相关性,具有G等位基因的人发生圆锥动脉干畸形的危险性相对增高;3个SNP位点所构成的单倍型有一定意义,可能与圆锥动脉干畸形易感基因相连锁。
Objective To detect and analyze the distribution of single nucleotide polymorphism (SNP) loci in patients with conotruncal heart disease and normal subjects, as well as the correlation between haplotype and conus arteriosclerosis. Methods The genotypes of three SNP loci in 130 patients with congenital heart disease and 200 normal subjects were analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The SNPs of patients and controls were analyzed statistically Site genotypes and allele frequencies. The haplotypes were constructed by PHASE software and the haplotype frequencies of patients and controls were statistically analyzed. Results The allele frequency and genotype frequency of G2963A locus were significantly different between patients and controls. The frequency of allele G was significantly higher in patients than in controls (χ2 = 8 · 14, P <0 · 005). Haplotype analysis revealed four haplotype frequencies in patients and control groups were statistically different (χ2 = 22 · 39P <0 · 005): G2857 / G2963 / A6571 and G2857 / G2963 / T6571 for the population Common haplotypes. Patients in the two groups G2857 / G2963 / A6571, C2857 / A2963 / T6571 haplotype frequencies higher than the control group. Conclusions There is a clear correlation between the SNP locus G2963A in TBX1 gene and conus arteriosclerosis, and the risk of congenital trunk deformity in people with G allele is relatively high. The haplotypes of three SNPs Have some significance, may be associated with conotruncal artery deformity susceptibility genes linked.