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生长分化因子5单核苷酸多态性与大骨节病的相关性
  • 期刊名称：西安交通大学学报(医学版) 2010，31（4）：501-504
  • 时间：0
  • 分类：R684.1[医药卫生—骨科学;医药卫生—临床医学;医药卫生—外科学]
  • 作者机构：[1]西安交通大学医学院免疫学与病原生物学系,陕西西安710061, [2]西安交通大学医学院教育部环境与疾病相关基因重点实验室,公共卫生系,陕西西安710061, [3]西安交通大学医学院法医系,陕西西安710061
  • 相关基金：国家自然科学基金重点项目（No.30630058）
  • 相关项目：大骨节病病因及发病机制研究
关键词： 单核苷酸多态性, 大骨节病, 生长分化因子5, single nucleotide polymorphism （SNP）, Kashin-Beck disease, growth differentiation factor 5 （GDFh）
中文摘要：

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。

英文摘要：

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.

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大骨节病病因及发病机制研究
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