生长分化因子5单核苷酸多态性与大骨节病的相关性

Association between GDF5 gene polymorphism and Kashin-Beck disease

目的探讨生长分化因子5(GDF5)基因3个单核苷酸多态性(SNP)位点多态性与大骨节病的关系。方法用限制性核酸内切酶酶切方法对103例大骨节病患者和91例健康人的GDF5基因上的3个SNP位点进行基因分型,计算相应人群中3个位点的基因型频率,比较各组间基因型频率的差异。结果单倍型重构分析显示单倍型AT、TGC和TAT在大骨节病患者和健康人群之间存在差异,但3个位点单位点关联分析未显示与大骨节病具有相关性。结论单倍型TGC与大骨节病具有相关性。

Objective To understand the association between the polymorphisms of three SNP loci of growth differentiation factor 5 （GDFh） gene and Kashin-Beck disease （KBD）. Methods We classified the three SNP loci of GDF5 genc by PCR-RFLP among the 103 KBD patients and 91 healthy controls, calculated and compared the genotypic frequency of the two groups to find the potential association between these polymorphisms and KBD. Results The haplotypes AT, TGC and TAT differed from those of the KBD patients and healthy controls. However, the correlation analysis based on single locus showed no significant association with KBD. Conclusion The polymorphism of haplotype TGC is associated with KBD.