【作者】 钱彪；

【导师】 王勤章； 丁国富；

【作者基本信息】 石河子大学 ， 外科学， 2008， 硕士

【摘要】 目的:1.探讨VDR基因多态性与新疆南部维吾尔族泌尿系结石的关系;2.探讨ApoE基因多态性与新疆南部维吾尔族泌尿系结石的关系;3.探讨VDR基因多态性和ApoE基因多态性交互作用与新疆南部维吾尔族泌尿系结石的关系。方法:收集90例维吾尔族泌尿系结石患者和90例维吾尔族正常对照者,采用聚合酶链反应和限制性酶切法研究VDR的Taq1、Apa1、Fok1等位基因型与ApoE基因型,计算并比较维吾尔族泌尿系结石组与正常对照组的基因型及等位基因频率,数据处理采取χ2检验。结果:1. Fok I酶切位点结石组和正常对照组之间FF、Ff、ff3种基因型频率的差异有统计学意义(χ2=8.28,p<0.001),基因型FF在结石组占43%,明显高于对照组(30%)差异有显著性意义;Ff型在病例组占39%,明显低于对照组(60%),差异有统计学意义,等位基因F、f的分布在结石组和正常对照组之间无统计学意义(p>0.05);2. Apa1酶切位点结石组和正常对照组AA、Aa、aa3种基因型频率的差异有统计学意义(χ2=14.22,p<0.001),基因型Aa在结石组占63.3%,明显高于对照组(35.6%),差异亦有显著性意义,等位基因A、a的分布在结石组和正常对照组之间无统计学意义(p>0.05);3.结石组与正常对照组之间Taq1酶切位点各基因型及等位基因频率差异无显著性意义(p>0.05);4. ApoE基因各基因型频率分布在结石组和对照组之间比较差异有统计学意义(χ2=13.031,df=2,p=0.001),在结石组中E3/4基因型占39%,在对照组占60%,结石组E3/4基因型携带者明显高于对照组;等位基因E3、E4的频率在结石组和对照组差异也有统计学意义(χ2=6.708 , df=2,p=0.010),等位基因E4在结石组中明显高于对照组;5.协同分析Fok I、Apa I位点,发现结石组FF/Aa基因型占31.1%,对照组FF/Aa基因型占10.0%,结石组FF/ Aa基因型明显高于正常对照组,差异有统计学意义,χ2=12.28,p<0.001;结石组Ff/aa基因型占4.4%,而对照组Ff/aa基因型占22.2%,结石组Ff/aa基因型明显低与正常对照组,差异亦有统计学意义χ2=12.3,p<0.001;6.协同分析VDR-Fok I、Apa I位点与ApoE基因,发现在结石组中FF/Aa/E3/4基因型占20.0%,对照组FF/Aa /E3/4基因型占2.2%,结石组FF/Aa/E3/4基因型明显高于正常对照组,差异有统计学意义,χ2 =14.4,p<0.001;结石组Ff/Aa/E3/3基因型占2.2%,而对照组Ff/Aa/E3/3基因型占13.3%,结石组Ff/Aa /E3/3基因型明显低与正常对照组,差异亦有统计学意义χ2=7.74,p<0.05。结论:维生素D受体与载脂蛋白基因多态性可能是新疆南部维吾尔族泌尿系结石患者的遗传易感因素,携带FF/Aa/E3/4基因型的人群更易患泌尿系结石,而Ff/Aa/E3/3基因型则是泌尿系结石的保护因素。更多还原

【Abstract】 Objective:1. To elucidate the relatonship between vitamin D receptor and urinary stone disease of Chinese uygur in XinJiang South.2. To elucidate the relatonship between apolipoprotein (Apo) E gene polymerphism and urinary stone disease of Chinese uygur in XinJiang South.3. To elucidate the relatonship between vitamin D receptor and apolipoprotein E gene polymerphism and urinary stone disease of Chinese uygur in XinJiang South.Methods: 90 Urinary Stone Disease patients and 90 normal controls were included. Polymerase chain reaction (PCR) and restriction endonuclease analysis were used to detect Taq1、Apa1、Fok1 of ditamin D receptor gene type and Apo E geno type. The results were analyzed using x2 test.Results:1. The genotype frequency distribution of Fok1 allele polymorphism in the urinary stone disease patients was significantly different from that in the control group(χ2=8.28,p<0.001). The frequency of the FF genotype in the patients(43%) was higher than in the control group(30%).2. The genotype frequency distribution of Apa1 allele polymorphism in the urinary stone disease patients was significantly different from that in the control group too (χ2=14.22,p<0.001). The frequency of the Aa genetype in the patients(63.3%) was higher than in the control group(35.6%).3. The genotype frequency distribution of Taq1 allele polymorphism in the urinary stone disease patients was npt significantly different from that in the control group (χ2=14.22,p<0.001). The frequency of the Aa genetype in the patients(63.3%) was higher than in the control group(35.6%).4. The frequency of E3/4 gene type in uronary stone disease patients was significantly higher than that in the control group (χ2=12.96, p<0.001)). The frequency of E4 allele in urinary stone disease patients was also significantly higher than that in the control group (χ2=6.61, p<0.025).5. The frequency of FF/ Aa gene type in uronary stone disease patients was significantly higher than that in the control group (χ2=12.28,p<0.001). The frequency of Ff/aa genetype in uronary stone disease patients was significantly higher than that in the control group too(χ2=12.3,p<0.001). 6. The frequency of FF/ Aa gene type in uronary stone disease patients was significantly higher than that in the control group (χ2=14.1,p<0.001). The frequency of Ff/aa genetype in uronary stone disease patients was significantly higher than that in the control group too(χ2=7.74,p<0.05).Conclusion:The VDR genotypes and ApoE genotypes may be used as genetic markers in prediction their risk of developing urinary stone disease of Chinese uygur in XinJiang South.更多还原