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目的在中国绝经前女性群体中研究钙敏受体基因内多态性位点986Ala/Ser(A986S)与骨密度和骨大小的关联。方法样本为来自上海市区的285例20.0~41.9岁绝经前汉族女性。用双能X射线骨密度仪测量腰椎和髋部骨密度和骨大小。用限制性片段长度多态性方法(PCR-RFLP)分析钙敏受体基因外显子7内的多态性位点986Ala/Ser(A986S)的多态性。有酶切位点基因片段表示为A,无酶切位点表示为S,基因型为AA、AS、SS。结果在中国女性群体中,AS基因型个体很少而缺少SS基因型个体。AA和AS基因型个体间骨密度和骨大小不存在显著性差异。结论钙敏受体在钙的代谢中有显著作用,该基因与骨表型间的关系需要进一步利用有意义的遗传标记来进行研究。
Objective To study the association of 986Ala / Ser (A986S) polymorphism site of calcium sensitive receptor gene with bone mineral density and bone size in Chinese premenopausal women. METHODS: A total of 285 premenopausal Han women aged 20.0 to 41.9 years from Shanghai urban area were enrolled. Lumbar spine and hip BMD and bone size were measured by dual energy X-ray absorptiometry. Polymorphism of polymorphism site 986Ala / Ser (A986S) in exon 7 of calcium sensitive receptor gene was analyzed by restriction fragment length polymorphism (PCR-RFLP). A restriction enzyme site fragment was expressed as A, no restriction enzyme site was expressed as S, genotype AA, AS, SS. Results In the Chinese female population, there were few individuals with AS genotype and few SS genotypes. There was no significant difference in BMD and bone size between AA and AS genotypes. Conclusion Calcium-sensitive receptors play a significant role in the metabolism of calcium. The relationship between this gene and the bone phenotype needs to be further studied by using meaningful genetic markers.