肾含钙结晶盐形成与维生素D受体基因启动子单核苷酸多态性的相关性研究

目的:研究肾含钙结晶盐形成与维生素D受体(VDR)基因启动子Fok Ⅰ位点单核苷酸多态性(SNP)之间的关系.方法:根据超声检查进行分组:80例肾皮质含钙结晶盐形成患者(A组)及80例无结晶盐形成者(B组).应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)对两组进行Fok Ⅰ多态性检测,分析两组间基因型和等位基因的分布情况.结果:A组基因型分布FF:30％(24/80),Ff:50％(40/80),ff:20％(16/80)；B组FF:34％(27/80),Ff:60％(48/80),ff:6％(5/80)；其中ff分布在两组中差异有统计学意义(P＜0.05).A、B两组F等位基因频率分布分别为55％(88/160)和64％(102/160)；f分别为45％(72/160)和36％(58/160),差异均无统计学意义(均P＞0.05).结论:VDR基因起始密码子中FokⅠ多态性与肾皮质含钙结晶盐形成有关系,超声作为一种无创简便的早期诊断方法在本研究中有着较重要的作用.

Relationship between SNP of vitamin D receptor start codon and renal calcium crystallization formation

Objective To investigate the relationship between single nucleotide polymorphism(SNP) of vitamin D receptor(VDR) gene start codon and renal calcium crystallization formation.Methods The subjects were divided into two groups of by ultrasonic examination.The DNA of 80 patients with renal calcium crystallization formation and 80 controls were abstracted from blood respectively.Polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) was used in determining VDR genotypes.The relationship was evaluated between VDR gene polymorphism of FokⅠalleles and renal calcium crystallization formation.Results Genetype distribution of FF,Ff,ff in group A was:30%(24/80),50%(40/80),20%(16/80) respectively and 34%(27/80),60%(48/80),6%(5/80) in group B.The distribution of allelic frequencies of F and f was 55%(88/160),64%(102/160)in group A and 45%(72/160),36%(58/160)in group B respectively.There was no significant difference between two groups in distributed frequency of FF and Ff(P >0.05).There was significant difference between two groups in distributed frequency of ff and allele(P < 0.05).Conclusion VDR FokⅠ start codon ff genotype polymorphisms may be correlated with formation of renal cortex calcium crystallization,ultrasound is a non-invasive,simple method and palys an important role in this research.