汉族人Ⅰ型胶原α1链Sp1结合位点基因多态性与骨质疏松症的相关性研究

Correlation between the polymorphism at the Sp1 binding site of the collagen type Ⅰalpha 1 gene and osteoporosis of Han individuals

目的:探讨位于汉族人I型胶原α1链(COL1A1)第1个内含子内Sp1结合位点G→T碱基突变的基因多态性。了解该位点多态性与骨质疏松的关系。方法:从150例随机人群抽取的汉族人的外周血中提取白细胞基因组DNA,用PCR扩增其COL1A1基因片段,产物用限制性内切酶进行酶切消化过夜,电泳鉴定基因型。结果:150例研究对象基因型经测定均为SS型,没发现Ss或ss基因型。结论:汉族人I型胶原α1链(COL1A1)Sp1结合位点不存在G-T突变或极其稀少,汉族人骨质疏松与Sp1结合位点多态性不存在必然的关联性。

AIM:To investigate the gene polymorphism of G→T base mutation of intron 1 at the binding site of the Sp1 transcription factor of the collagen type I alpha 1 gene(COL1A1) of the Han people,and to discuss the relationship between the polym orphism and osteoporosis.METHODS:White blood cell genomes of peripheral blood were extracted from 150 r andom people of Han nationality.Fragment from the COL1A1 gene was amplified by u sing PCR,the products were performed with overnight incubation with restriction enzyme,and the genotypes were evaluated by electrophoretic analysis. RESULTS:The genotypes of the 150 individuals were all type SS,and neither type Ss nor type ss was found.CONCLUSION:The G→T base mutation is never or rarely found at COL1A1 Sp1 bindi ng site of Han people,so there is no certain correlation between osteoporosis an d gene polymorphism at the Sp1 binding site of COL1A1 of Han individuals.