脊柱融合术患者BMP-2基因突变的检测及其意义

Mutational analysis of BMP-2 gene in the patients of spinal fusion

目的检测脊柱融合术患者的骨形态发生蛋白-2(BMP-2)基因突变状况。方法从80例行脊柱融合术患者的术前空腹静脉血中提取DNA,采用聚合酶链反应—单链构象多态性分析(PCR-SSCP)及测序技术,检测其BMP-2基因部分编码区及其侧翼序列的突变。结果脊柱融合术患者的外周静脉血中BMP-2基因有突变:TCG→GCG,TCA→TCG,并引起相应多肽的结构改变。结论脊柱融合术患者中存在BMP-2基因突变及多态性分布,并有可能影响植骨融合效果。

[Objective] To detect the BMP-2 gene mutations in patients of spinal fusion. [Methods] Totally 80 patients were included in this study. DNA was extracted from the venous blood before operation and identified by single stranded conformation polymorphism（SSCP） analysis and direct sequencing. [Results] A total of 2 variants and polymorphism were detected （TCG→GCG, TCA→ TCG） and resulted in the change of polypeptides. [Conclusion] Our study confirms BMP-2 gene mutation in patients of spinal fusion and may affect the bony fusion.