《中国康复理论与实践》

《中国康复理论与实践》 ›› 2011, Vol. 17 ›› Issue (1): 39-41.

• 论文 • 上一篇    下一篇

骨形态发生蛋白-4基因单核苷酸多态性与颈椎后纵韧带骨化症

赵伟光，谢延平，闫亮，胡志恒，王浩，林欣   

  1. 首都医科大学附属北京天坛医院骨科，北京市 100050。
  • 收稿日期:2010-11-12 修回日期:1900-01-01 出版日期:2011-01-25 发布日期:2011-01-25
  • 通讯作者: 林欣

Bone Morphogenetic Protein-4 Gene Polymorphism Associated with Ossification of Posterior Longitudinal Ligament in Chinese Patients

ZHAO Wei-guang, XIE Yan-ping, YAN Liang, et al.   

  1. Department of Orthopaedics, Tiantan Hospital, Capital Medical University, Beijing 100050, China
  • Received:2010-11-12 Revised:1900-01-01 Published:2011-01-25 Online:2011-01-25

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被引次数

14

摘要： 目的探讨骨形态发生蛋白-4(BMP-4)单核苷酸多态性与颈椎后纵韧带骨化(OPLL)的遗传关联性。方法OPLL病例组和正常对照组各200例，利用聚合酶链反应（PCR）和直接测序法分析BMP-4上4个单核苷酸多态性位点6007C>T（rs17563），-5826G>A（rs1957860), 3564C>T(rs2855532)和IVS-160C>T(rs2071047)基因型及等位基因的分布。结果两组间位点rs17563、rs2855532基因型与等位基因型有显著性差异（P＜0.05）。病例组中rs17563带C+基因型与C-基因型骨化椎体数量有非常高度显著性差异（P<0.001）,前者骨化椎体数量明显少于后者；rs2855532 T+基因型与T-基因型骨化椎体数量有显著性差异（P<0.05），前者骨化椎体数量多于后者。余两位点无显著性差异（P>0.05）。结论BMP-4基因的两个单核酸多态性位点rs17563、rs2855532等位基因型突变与OPLL的发生和发展有关。

关键词: 后纵韧带骨化症, 骨形态发生蛋白-4, 基因, 单核苷酸多态性

Abstract: ObjectiveTo explore the relationship of single nucleotide polymorphism (SNPs) of the bone morphogenetic protein-4 (BMP-4) gene with the morbidity and severity of the ossification of posterior longitudinal ligament (OPLL) of the spine in Chinese patients. MethodsThe venous blood samples of 200 OPLL patients and 200 non-OPLL controls were measured with the DNA sequences in four locus of BMP-4 gene with polymerase chain reaction(PCR). ResultsThere was a significant association between the rs17563，rs2855532 polymorphism and the occurrence of OPLL （P＜0.05）. The ''T'' allele in these 2 SNPs promotes the extent of OPLL (P<0.05). However, no significant association in morbidity and severity was found between the other 2 SNPs (rs1957860, rs2071047). ConclusionSNPs in rs17563，rs2855532 associates with the morbidity and severity of the ossification of posterior longitudinal ligament of the spine in Chinese patients.

Key words: ossification of posterior longitudinal ligament, bone morphogenetic protein-4, gene, single nucleotide polymorphism