汉族人和法国人Ⅰ型胶原α链Spl结合序列MscⅠ酶切位点基因多态性的比较

Difference in Spl binding site polymorphism at collagen type Ⅰα1 gene between healthy adults of Han nationality and French nationality

目的 了解中国汉族人和法国人Ⅰ型胶原α链Spl结合序列MscⅠ酶切位点基因多态性分布的异同。方法 对 96例中国汉族人和 78例法国人用DXA骨密度仪进行BMD测量 ,同时采集全血并抗凝保存。用聚合酶链式反应、限制性酶切技术对Ⅰ型胶原α链Spl结合序列基因型进行分析。结果 96例汉族人的基因型均为SS ,78例法国人的基因型为 5 3例SS、2 2例Ss和 3例ss,经Fisherχ2 检验 ,显示差异有非常显著性 (P <0 0 1)。结论 汉族人和法国人的Ⅰ型胶原α链Spl结合序列MscⅠ酶切位点基因多态性显著不同。汉族人Ⅰ型胶原α链Spl结合序列MscⅠ酶切位点稀少。

Objective\ To compare alleles of Spl binding site polymorphism at collagen type Ⅰα1(COLIA1)gene between Han nationality and French nationality. Methods\ Bone mineral density was measured by dual\|energy X\|ray absorptiometry,and the polymorphism of Spl binding site at the COLIA1 gene was determined by polymerase chain reaction\|restriction fragment length polymorphism in 96 healthy adults of Han nationality and 78 healthy adults of French nationality. Results\ The Spl polymorphism at the COLIA1 was not found in Han subjects.There were 53 SS homozygotes,22 Ss heterozygotes,and 3 ss homozygotes in French subjects.The difference between Han and French nationality was significant by Fisher's χ 2 test( P<0 01 ). Conclusion\ There is significant difference in an intronic Spl binding site polymorphism at the COLIA1 gene between healthy adults of Han nationality and French nationality.The alleles of Spl binding site at the COLIA1 gene are rare in Han Nationality.