中文摘要：

目的研究绝经后骨质疏松症患者中COLIA1基因启动子区-1997G/T位点多态性对该基因mRNA表达量的影响以及与骨生物力学的相关性。方法应用聚合酶链反应-限制性片段长度多态性（polymerase chain reaction-restrictionfragment length polymorphism,PCR-RFLP）方法检测COLIA1基因启动子区-1997G/T位点多态性;半定量逆转录-聚合酶链反应（reverse transcription-polymerase chain reaction,RT-PCR）分析COLIA1基因启动子区-1997G/T位点多态性对COLIA1基因mRNA的表达量的影响,并检测股骨头负重区松质骨的最大载荷、极限应力、极限应变和弹性模量。结果GG、GT、TT基因型组的COLIA1基因mRNA相对表达量分别为3.4±1.2、3.2±1.2和1.7±0.2;GG、GT、TT基因型组的股骨头负重区松质骨的生物力学测试结果分别为：最大载荷（218.88±79.02）N、（240.47±76.27）N、（204.51±69.58）N,极限应力（5.34±1.70）Mpa、（5.88±1.86）Mpa、（5.00±1.93）Mpa,极限应变10.65%±4.01%、10.27%±4.67%、11.23%±5.67%,弹性模量（53.35±26.15）Mpa、（61.26±31.47）Mpa、（47.69±28.64）Mpa。股骨头负重区松质骨COLIA1基因mRNA表达量与该部位松质骨最大载荷、极限应力和极限应变的相关系数分别为0.425、0.425和-0.343（P〈0.05）。结论COLIA1基因启动子区-1997G/T位点多态性与该基因mRNA表达量相关,突变的TT纯合子表达量下调;股骨头负重区松质骨COLIA1基因mRNA表达量与该部位松质骨抗压缩力学性能相关。

英文摘要：

Objective To investigate the correlation of - 1997G/T site polymorphism in COLIA1 upstream promoter region and gene expression, biomeehanical property of eancellours bone in bearing area of femur heads. Methods The genotypes of - 1997G/T site in COLIA1 were detected by polymerase chain reaction-restriction fragment length polymor-phism （PCR-RFLP）. The expressions of COLIA1 mRNA were determined by real-time RT-PCR. Data were evaluated by relative expression software tool （REST-XL）. Biomechanical property of cancellours bone in bearing area of femur heads were measured by compression tests. Results The relative expression quantity of COLIA1 gene are 3.4± 1.2, 3.2 ± 1.2 and 1.7 ± 0. 2 in GG, GT and TT groups, respectively; biomechanical data of cancellours bone in bearing area of femur heads in GG, GT and TF groups were： max load： （218. 88±79.02） N, （240.47 ±76.27） N, （204. 51± 69.58） N; limiting stress ： （5.34±1.70） Mpa, （5.88±1.86） Mpa, （5.00±1.93） Mpa; limiting straining ： 10.65%±4.01%, 10.27% ±4.67%, 11.23%±5.67%; elastic modulus： （53.35±26. 15） Mpa, （61.26± 31.47） Mpa, （47. 69 ±28.64） Mpa. The correlation coefficients between mRNA quantity and max load, limiting stress and limiting straining were 0. 425, 0. 425 and - 0. 343 （ P 〈 0. 05 ）. Conclusion There is a significant correlation between - 1997G/T polymorphism and COLIA1 gene expression, the expression of mutational TT homozygote is down regulated; and COLIA1 gene expression is correlated to biomechanical property of cancellours bone in bearing area of femur head.