中国人群骨质疏松症的遗传学分析-遗传学专业论文.docx

中国科学技术大学博士学位论文研究报告一中国绝经后女性人群中MTHFR C677T多态性与骨折发生风险的相关性研究摘要··········，·················································，·········，·············……55引言········，·························································，·················……561.材料和方法······……‘···············，········································……571.1研究人群1.2 BMD 测量与骨折的诊断1.3潜在的混杂信息1.4基因型检测1.5 统计分析方法2.结果··············································································……602.1一般人口学特征2.2 MTHFR C677T基因型，BMD 及骨质疏松症2.3MTHFR基因型与骨折的关系2.4 MTHFR C677T与膳食变量的交互作用分析3.讨论··············································································……66参考文献···········································································……70二、白介素1系统的基因多态性与骨密度个体差异的相关性分析摘要···························································，························……73弓}言···················，······，·························································……741.材料和方法·······································……”······················……761.1研究人群1.2 BMD 测量与骨折的诊断1.3潜在的混杂信息1.4基因型检测1.5统计分析方法2. 结果···········································································……802.1 各多态位点频率、HWE 检验及SNP 两两间的D’值2.2 一般人口学特征2.3基因多态性与极低股骨颈骨密度的1。gistic分析2.4单个基因多态性与不同骨部位骨密度的多变量回归分析2.5 ILIB C一5llT基因多态性与绝经年限的交互作用3.讨论·····················，·············，·······································……86参考文献···········································································……90中国科学技术大学博十学位论文三、cYP19AI及雌激素工型受体基因在中国人群中与骨矿物质密度相关性的研究摘要···························，····················，·····················，·····，·······……93引言····················································································……941.材料和方法·····································································……951.1研究人群及表型测量1.2多态位点的选择及其基因型检测1.3统计学分析方法2.结果···········································································……972.1一般人口学特征2.2 CYP19AI 基因型，等位基因频率及Hardy一weinberg平衡检验2.3连锁不平衡及单倍型频率估计2.4CYP19AI基因多态性与BMD的相关性分析2.5 CYP19AI 基因单倍型与BMD的相关性分析2.6 ESRI基因多态性与BMD 的相关性分析3.讨论·······