Ⅰ型胶原α1基因多态性与原发性骨质疏松症的相关性研究

Relationship between polymorphisms of collagen type Ⅰ alpha 1 gene and primary osteoporosis

目的 探讨Ⅰ型胶原α1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 (1)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;(2)30例健康对照组,性别、年龄与之对应;(3)全部对象均行骨密度测定;(4)采静脉血,EDTA抗凝;(5)淋巴细胞分离液分离白细胞,置-80℃保存;(6)分离的白细胞中提DNA;(7)ARMS-PCR检测。结果 60例原发性骨质疏松患者中选出1例Ss型,其余均为SS型;30例健康对照组均为ss型。结论 Ⅰ型胶原α1基因多态性与原发性骨质疏松症、骨质疏松性骨折无关。

Objective To study the relationship between collagen type Ⅰ alpha 1 gene polymorphisms and primary osteoporosis and fracture of osteoporosis. Methods Sixty patients (including 30 fractured patients and 30 normal controls) were observed. All the subjects underwent measurement of bone mineral density(L2-L4) with Norland-XR36 DEXA. Collagen type Ⅰ alpha 1 genotypes were determined by the method of amplification refractory mutation system-polymerase chain reaction (ARMS-PCR). Results All samples were of SS genotypes of COLIα 1 gene except one of Ss genotype. Conclusion The contribution of Spl site variation of COLIα1 gene bears no relation to primary osteoporosis and osteforotic fracture.