【摘要】 目的 探讨位于维吾尔族人I型胶原α1链(COL1A1)第一个内含子内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名随机人群抽取的维吾尔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 维吾尔族人I型胶原α1链(COL1A1)Sp1结合位点不存在G-T突变或极其稀少，维吾尔族人骨质疏松与Sp1结合位点多态性不存在必然的关联性。

    【关键词】 COL1A1 基因多态性 民族

    Study of the polymorphism at the Sp1binding site of the collagen typeⅠalpha1gene(COL1A1)of the weiwuer nationality

    Ran Jinwei，Deng Zhongliang，Huang Chaoliang，et al

    The Second Affiliated Hospital of Chongqing University of Medical Sciences，Chongqing40010.

    【Abstract】 Objective To detecte the G→Tmutation at base1of intron1at the binding site of the Sp1tran-scription factor of the collagen type I alpha1gene(COL1A1)of the Weiwuer nationality.And investigate the relation-ship between the polymorphism and osteoporosis.Methods White blood cell genomes of venous blood were extracted from one hundred and fifty randomly people of the Weiwuer nationality.Genotype for this polymorphism was deter-mined by using PCR ......