北京地区汉族成人甲状旁腺素基因多态性与骨矿盐密度的相关性  

Polymorphism of Parathyroid Hormone Gene And Its Association with Bone Mineral Density of Han Nationality Women in Beijing Area

作　　者：李梅[1] 孟迅吾[1] 周学瀛[1] 邢小平[1] 

机构地区：[1]中国医学科学院中国协和医科大学协和医院内分泌科,北京100730

出　　处：《中国医学科学院学报》2001年第1期45-48,共4页Acta Academiae Medicinae Sinicae

基　　金：国家自然科学基金!( 39370747);中国医学科学院基金!( 91006)资助&&

摘　　要：研究北京地区健康汉族成人甲状旁腺素（ PTH）基因的多态性分布以及 PTH基因型与年轻及绝经后妇女骨矿盐密度（ BMD）的相关性。方法对 270名研究对象基因组 DNA样品作限制性内切酶 Bst B1的聚合酶链反应限制性片段长度多态性检测，以确定他们的 PTH基因型 ,部分 PTH基因型经 DNA序列测定证实（以" B"表示具有 BstB1酶解位点，" b"表示缺乏该酶解位点）。采用双能 X射线骨密度仪测量腰椎及髋部的 BMD。结果北京地区汉族人群 PTH基因 BB、 Bb、 bb型的频率分别为 73.7％、 25.9％、 0.4％，等位基因 B、 b频率分别为 86.7％及 13.3％。绝经后妇女 BB、 Bb、 bb型的频率分别为 67.1％、 32.2％、 0.7％，等位基因 B、 b频率分别为 83.2％及 16.8％。年轻妇女与绝经后妇女 BB与 Bb基因型组间其腰椎 2～ 4、股骨颈、 Wards三角及大转子部位 BMD差异均无显著性（ P >0.05），相关性分析表明 PTH基因型与 BMD无明显相关性（ P >0.05）。结论北京地区汉族妇女 PTH基因型与腰椎 2～ 4、股骨颈、 Wards三角及大转子 BMD均无明显相关性。Objective To investigate the distribution of frequency of parathyroid hormone(PTH) gene polymorphisms in healthy adults of Han nationality in Bejing area and relationship between PTH genotypes and bone mineral density(BMD) in young and postmenopausal women. Methods Polymorphisms of PTH gene were detected by polymerase chain reaction restriction fragment length polymorphism(PCR- RFLP) of restriction enzyme Bst B1 in 270 subjects. If the site of enzyme Bst B1 existed, the PTH genotype was' B' . On the contrary, if base mutation occurred, the genotype was' b' . Some of the PTH genotypes were confirmed by DNA sequences analysis. Bone mineral density(BMD) was measured by dual- energy X- ray absorptiometry. Results Genotype frequencies of BB, Bb, bb were 73.7％， 25.9％， and 0.4％ respectively in adults of Beijing areas. The frequencies of RFLP alleles B,b were 86.7％ and 13.3％ . Beijing postmenopausal women frequencies of BB, Bb, bb were 67.1％ , 32.2％ and 0.7％ . B, b alleles frequencies were 83.2％ and 16.8％ . We statistically compared bone mineral density at the lumbar 2- 4, neck, wards triangle and trochanter major, there was no significant difference between BB and Bb genotype of young women and postmenopausal women groups. Otherwise, no obvious relationship was found between the BMD and PTH genotype in Beijing women. Conclusions PTH gene polymorphisms were not associateds with BMD in Beijing women .

关 键 词：甲状旁腺素 骨矿盐密度 基因多态性 骨质疏松 

分 类 号：R681[医药卫生—骨科学]