【作者】 周丽；

【导师】 李宇宁；

【作者基本信息】 兰州大学 ， 儿科学， 2009， 硕士

【摘要】 目的研究维生素D受体(VDR)基因ApaⅠ、BsmⅠ位点多态性与婴幼儿佝偻病的相关性,探讨其遗传易感性,为临床探索一条新的诊治途径提供理论依据。方法采用病例对照研究,选择确诊的佝偻病患儿56例(病例组)和正常婴幼儿76例(对照组)作为研究对象。应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)分析检测VDR基因ApaⅠ、BsmⅠ位点的多态性,比较两组之间的VDR基因型和等位基因频率,并用SHEsis软件分析ApaⅠ、BsmⅠ连锁不平衡及单倍型频率。结果病例组和对照组婴幼儿VDR基因ApaⅠ位点基因型分布频率分别为:AA(14.3%),Aa(46.4%),aa(39.3%)和AA(13.3%),Aa(50%),aa(36.8%),两组之间的差异无统计学意义(x~2=0.166,P＞0.05);病例组和对照组婴幼儿的VDR基因ApaⅠ位点等位基因分布频率分别为A(37.5%),a(62.5%),A(38.2%),a(61.8%),两组之间的差异无统计学意义(x~2=0.12,P＞0.05);婴幼儿佝偻病患儿和对照组婴幼儿VDR基因BsmⅠ位点基因型分布频率分别为:BB(3.6%),Bb(21.4%),bb(75.0%)和BB(1.3%),Bb(18.4%),bb(80.3%),两组之间的差异无统计学意义(x~2=0.521,P＞0.05);佝偻病患儿和对照组婴幼儿的VDR基因BsmⅠ位点等位基因分布频率分别为B(14.3%),b(85.7%)和B(10.5%),b(89.5%),两组之间差异无统计学意义(x~2=0.783,P＞0.05)。ApaⅠ与BsmⅠ二位点D′为0.230,r~2为0.010。D′＜0.7,两位点之间不存在连锁不平衡。单倍型分析显示在病例组和对照组中的分布频率差异无统计学意义(P＞0.05)。结论VDR基因ApaⅠ、BsmⅠ位点的多态性可能与婴幼儿佝偻病遗传易感性无关。更多还原

【Abstract】 Objective To study the association between vitamin D receptor(VDR) gene polymorphism and vitamin D deficiency rickets in Infants and to explore the genetic susceptibility of its.Methods Case-control study was adapted. Choose confirmed 56 cases of infants with rickets(case group) and 76 cases of normal infants (control group) as the subjects. VDR gene ApaI and BsmI polymorphisms were determined by PCR-RFLP technology. The frequencies of the VDR genotype and allele were compared between the two groups. Frequency of haplotypes and linkage disequilibrium of ApaI and BsmI polymorphism in two groups were analysis by the SHEsis programs.Results Frequencies of AA, Aa and aa genotypes were 14.3%, 46.4% and 39.3% in the rickets group, and 13.3%, 50% and 36.8% in the control group respectively, frequencies of A, a alleles were 37.5%, 62.5% in the rickets group and 38.2%, 61.8% in the control group respectively. Frequencies of BB, Bb and bb genotypes were 3.6%, 21.4% and 75.0% in the rickets group, and 1.3%, 18.4% and 80.3% in the control group respectively, frequencies of B, b alleles were 14.3%, 85.7% in the rickets group and 10.5%, 89.5% in the control group respectively. No significant difference was found in either the frequency distribution of this VDR genotype or this allele (A or a; B or b) between two groups. Two polymorphisms didn’t show linkage disequilibrium and D’ and r~2 is respectively 0.230, 0.010. The haplotype analysis revealed that there was not different in Frequency of haplotypes between two groups.Conclusion The ApaI and BsmI polymorphism of VDR gene might be not associated with vitamin D deficiency rickets in infants.更多还原