中文摘要：

目的：探讨COL2A1基因上2个单核苷酸多态性（single nucleotide polymorphism，SNP）位点rs2070739和rs1635550与大骨节病（Kashin—Beckdisease，KBD）的关联关系。方法：本研究选取64例大骨节病患者为病例组，选取60例健康人群为对照组，对所选基因的2个SNP位点进行基因分析，计算相应人群中2个SNP位点的基因型频率、单位点等位基因频率，比较各组间基因型频率、单位点等位基因频率的差异。结果：本研究所选取的2个SNP位点rs2070739和m1635550在基因型频率、单位点等位基因频率及单倍型重构分析中与大骨节病均无显著性关联。结论：在后续研究中进一步增大样本量和SNP标记密度，进行全基因关联分析，探讨COL2A1基因与大骨节病的相关性。

英文摘要：

Objective： To investigate the association between the collagen type I1 A1 （ COL2A1 ） gene and Kashin - Beck disease （KBD）, Methods： Using the strategy of case -control and typing two SNP loci of COL2A1 gene among 64 KBD cases and 60 health controis to probe the potential association between these polymorphisms and KBD. Results： The association both single locus and haplotypos in rs2070739 and rs1635550 showed no significant association. Conclusion： Increasing the sample size and the SNP mark density in the following research, to carry on the entire gene connection analysis and confirm the relevance between COL2A1 gene and Kaschin -Beck disease.