中文摘要：

目的从分子水平探讨上海地区汉族绝经后妇女Ⅰ型胶原α1基因SP1结合位点多态性与骨密度（BMD）的关系，为阐明骨质疏松的遗传机制提供依据。方法对250例上海地区绝经后健康、汉族、无亲缘关系妇女采用双能X线吸收仪检测腰椎1～4和股骨近端的BMD，使用PCR—RFLP方法检测绝经后妇女Ⅰ型胶原基因SP1结合住点多态性，同时随机选择20例绝经后妇女的PCR反应目的条带进行DNA序列分析。结果250例绝经后妇女的PCR产物无一例能用Ba1 Ⅰ酶切开，显示均为SS基因型，其中20例绝经后妇女的PCR反应目的条带经DNA序列分析证实是SS基因型。结论绝经后汉族妇女Ⅰ型胶原基因SP1结合位点无多态性，亦即不存在与BMD变异的关联性，提示汉族妇女骨质疏松的遗传背景与白种人有显著差别。

英文摘要：

Objective To investigate the relationship between collagen typeⅠ alphl gene polymorphism and bone mineral density （BMD） in healthy postmenopausal women in Shanghai by means of molecular technology so as to provide certain scientific proof for expounding genetic mechanism of osteoporosis. Methods BMD （ g/cm^2 ） of the lumbar spine 1 - 4 （ L1 - 4） and proximal end of left femur in 250 healthy postmenopausa] women of Han nationality, who are of no blood relation among them, in Shanghai were measured by dual - energy X - ray absorptionmetry （DXA）, The SP1 binding sites polymorphism of typeⅠ collagen alpha 1 gene were measured using PCR - RFLP in all samples, Moreover, 20 subjects among them were detected for aimed band of PCR reaction by means of DNA sequence analysis, Results None of 250 subjects＇ PCR band could be digested by Bal Ⅰ enzyme, and nor digestion sequence in collagen gene could be found in 20 subjects selected through DNA sequence analysis. The results showed that all samples were SS genotype. Conclusion The findings suggested that there is no SP1 binding site polymorphism in typeⅠ collagen gene in postmenopausal women of Han nationality and no correlation with the variant of BMD. Our results showed that there is much difference between Han and Caucasian populations in genetics background of osteoporosis.