载脂蛋白E基因多态性与原发性骨质疏松症的相关性研究  

A study on the relationship between apolipoprotein E gene polymorphism and prima ry osteoporosis

作　　者：陶军[1] 许永武[1] 都丽[1] 刘燕[1] 万琼[1] 刘小琴[1] 庄传记[1] 

机构地区：[1]南昌市第一医院骨科,330008

出　　处：《中华创伤骨科杂志》2004年第4期423-426,共4页Chinese Journal of Orthopaedic Trauma

基　　金：江西省卫生厅科技计划项目(2002019)

摘　　要：目的探讨载脂蛋白E基因多态性与原发性骨质疏松症、骨质疏松性骨折的相关性。方法选出60例原发性骨质疏松患者,其中髋部骨折组30例均为新近骨折并有X线片为诊断依据,30例健康对照组性别、年龄与之对应。全部对象均行骨密度测定;采静脉血,EDTA抗凝;淋巴细胞分离液分离白细胞,置-80℃保存;分离的白细胞中提取DNA;基因位点DNA扩增;PCR扩增产物SSCP分析。结果骨质疏松组及骨质疏松性骨折组载脂蛋白E基因2型、3型、4型等位基因频率分别为0.05、0.80和0.15,0.1167、0.5667和0.3167,而30例健康对照组依次为0.10、0.8667和0.0333。载脂蛋白E基因4型等位基因频率三组比较差异有显著性(X2=17.520,P<0.01);骨质疏松组及骨质疏松性骨折组携带载脂蛋白E基因4型频率明显高于正常人群;骨质疏松性骨折组携带载脂蛋白E基因4型频率明显高于骨质疏松组。结论载脂蛋白E4与原发性骨质疏松症、骨质疏松性骨折有密切相关性;载脂蛋白E4是原发性骨质疏松症,尤其是骨质疏松性骨折一个有用的标志物。Objective To study the relationship between Apolipoprotein E Gen e polymorphism and both primary osteoporosis and fracture of osteoporosis. Methods 60 patients with primary osteoporosis (30 fractured patients) and 30 normal con trols were included. The bone mineral density (L2-4) was assayed with NORLAND— XR36DEXA for all the patients. The ApoE genotypes were determined with the metho d of polymerase chain reaction single strand conformation polymorphism (PCR-SSC P). Results The frequencies of ApoE2, E3, E4 alleles in the 30 primary osteoporo sis patients and the 30 fractured patients were respectively 0.05, 0.80 and 0.15 ,0.1167, 0.5667 and 0.3167; 0.10, 0.8667 and 0.0333 in the 30 normal controls. The frequency of E4 was significantly higher in the primary osteoporosis patient s than in the normal controls, and higher in fractured patients than that in pri mary osteoporosis patients. Conclusion The ApoE4 allele is associated with prima ry osteoporosis and fracture of osteoporosis. ApoE4 genotype might be a useful m arker for primary osteoporosis, especially for fracture of osteoporosis.

关 键 词：载脂蛋白E 基因多态性 原发性骨质疏松症 相关性 聚合酶链反应 

分 类 号：R58[医药卫生—内分泌]