维生素D受体基因多态性与上尿路结石复发的相关性分析  

Relationship between vitamin D receptor gene FokⅠpolymorphism and relapse of upper urinary tract stones

作　　者：阮黎[1] 过新民[2] 

机构地区：[1]暨南大学医学院第四附属医院(广州市红十字会医院)泌尿外科,广东广州510220 [2]暨南大学医学院第四附属医院(广州市红十字会医院)超声诊断科,广东广州510220

出　　处：《中国现代医学杂志》2015年第21期39-42,共4页China Journal of Modern Medicine

基　　金：广东省科技厅社会发展项目(No:20120318079)

摘　　要：目的研究维生素D受体(VDR)基因启动子FokⅠ酶切多态性与上尿路结石复发的关系。方法应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)对83例结石复发患者(复发组)及106例结石无复发患者(对照组)的外周血进行FokⅠ酶切多态性检测,分析两组间基因型和等位基因的频率分布。通过B超检查确定结石有无复发。结果两组患者的年龄差异无统计学意义(P>0.05),FokⅠ酶切多态性位点三种基因型的基因频率分布均符合Hardy-Weinberg定律。FokⅠ酶切多态性位点FF、Ff、ff基因型在复发组与对照组的分布频率分别为:15.7%(13/83),51.8%(43/83),32.5%(27/83);29.2%(31/106),51.9%(55/106),18.9%(20/106),差异有统计学意义(P<0.05)。两组中等位基因F、f的分布频率分别为:41.6%(69/166),58.4%(97/166)和55.2%(117/212),44.8%(95/212),差异有统计学意义(P<0.05)。结论 VDR基因FokⅠ酶切位点多态性与上尿路结石的复发有一定的相关性。【Objective】To investigate the relationship between single nucleotide polymorphism（SNP） of vitamin D receptor（VDR） gene and relapse of upper urinary tract stones.【Methods】Two groups of subjects were included.The DNA of 83 patients with relapse of upper urinary tract stones（relapse group） and 106 controls without relapse of upper urinary tract stones（control group） was 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 FokⅠ alleles and relapse of upper urinary tract stones. 【Results】The genotype distribution of the two groups was in Hardy-Weinberg equilibrium. There was no statistical difference in age between both groups. Genotype distribution of FF, Ff and ff was 15.7%（13/83）, 51.8%（43/83） and 32.5%（27/83） in the relapse group and 29.2%（31/106）, 51.9%（55/106） and 18.9%（20/106） in the control group respectively.There were significant differences in distributed frequencies of genotype between the two groups（P 0.05）. The distribution of allelic frequencies of F and f was 41.6%（69/166） and 58.4%（97/166） in the relapse group and 55.2%（117/212） and 44.8%（95/212） in the control group respectively with significant differences between both groups（P 0.05）.【Conclusion】VDR FokⅠ polymorphisms may be correlated with relapse of upper urinary tract stones.

关 键 词：维生素D受体 单核苷酸多态性 上尿路 结石 复发 

分 类 号：R691.4[医药卫生—泌尿科学] R394.5[医药卫生—外科学]