【摘要】 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。更多还原

【Abstract】 Objective To investigate the association of a calcium-sensing receptor (CaSR) gene missense polymorphism, 986Ala/Ser (A986S), with bone mineral density (BMD) and bone size in healthy Chinese premenopausal women. Methods A total of 285 healthy Chinese premenopausal women (20.0 to 41.9 years of age) of Han nationality in the urban area of Shanghai were recruited for this study. The BMD and bone size of the spine and hip were measured by dual-energy X-ray absorptiometry. All the subjects were genotyped at the CaSR A986S site in exon 7 with polymerase chain reaction followed by restriction enzyme BsaHI digestion. The presence of the restriction fragment site was represented by alanine (A), while its absence by serine (S), rendering the genotypes AA, AS, and SS. Results The genotype AS was rare and SS absent in these Chinese women, and no significant differences in the BMD or bone size of either the spine or hip were found between the two genotypes. Conclusion Given the important role of the CaSR in calcium metabolism, further studies with useful genetic markers may have better chances to define the association of the CaSR gene with bone phenotype variations.更多还原