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  

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

作　　者：赵伟光[1] 谢延平[1] 闫亮[1] 胡志恒[1] 王浩[1] 林欣[1] 

机构地区：[1]首都医科大学附属北京天坛医院骨科,北京市100050

出　　处：《中国康复理论与实践》2011年第1期39-41,共3页Chinese Journal of Rehabilitation Theory and Practice

基　　金：国家自然科学基金(30872599);北京市自然科学基金(7092028)

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;rs2855532T+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。Objective To 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.Methods The 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）.Results There was a significant association between the rs17563,rs2855532 polymorphism and the occurrence of OPLL（P0.05）.The ＇＇T＇＇ allele in these 2 SNPs promotes the extent of OPLL（P0.05）.However,no significant association in morbidity and severity was found between the other 2 SNPs（rs1957860,rs2071047）.Conclusion SNPs in rs17563,rs2855532 associates with the morbidity and severity of the ossification of posterior longitudinal ligament of the spine in Chinese patients.

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 

分 类 号：R686.5[医药卫生—骨科学]