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 absorptiomern try. 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.
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