四种基因多态性与视网膜色素变性的相关性研究

Association of 4-gene polymorphism with retinitis pigmentosa

【目的】探讨SAG、TULP1、RDS、PRPF31基因多态性与视网膜色素变性的关系,为视网膜色素变性的病因学研究提供理论依据。【方法】采用病例对照研究方法,采集病例组与对照组外周血血液并应用试剂盒提取基因组DNA,进行候选位点基因型的检测。使用SPSS及在线的SNPStats软件进行统计学分析。【结果】TULP1基因rs2064318、rs9380516等位基因在病例组与对照组的频数分布差异具有统计学意义(P<0.05),且在显性遗传模式下基因型在病例组与对照组频数分布差异亦具有统计学意义(P<0.05)。SAG基因rs1046974、RDS基因rs434102及PRPF31基因rs460824位点等位基因和基因型在病例组与对照组的频数分布差异均不具有统计学意义(P>0.05)。【结论】TULP1基因rs2064318、rs9380516位点多态性与视网膜色素变性存在关联。SAG基因rs1064974、RDS基因rs434102及PRPF31基因rs460824位点多态性与视网膜色素变性无关联。

【Objective】To explore the association of gene polymorphism of SAG, TULP1, RDS and PRPF31 with retinitis pigmentosa,and provide theoretical evidence for etiology research of retinitis pigmentosa.【Methods】A case-control design was selected. Genomic DNA was extracted from peripheral blood lymphocytes of each subject in case group and control group with Clot Blood DNA Kit. Genotypes of candidate locations were detected. SPSS21.0 and online SNPStats were used for statistical analysis.【Results】According to gene TULP1, frequency distributions of rs2064318 and rs9380516 alleles in both groups were statistically different; genotype frequency distributions in both groups were also statistically different under dominant mode of inheritance. There was no significant difference in allele and genotype frequency distributions of both groups for SAG gene rs1046974, RDS gene rs434102 and PRPF31 gene rs460824（P〈0.05）.【Conclusion】The polymorphism of TULP1 gene rs2064318 and rs9380516 was associated with retinitis pigmentosa. However the polymorphisms of SAG gene rs1046974, RDS gene rs434102 and PRPF31 gene rs460824 were not associated with retinitis pigmentosa..