CAJ | 학술논문

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.结论钙受体在钙的代谢中有显著的作用,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.
목적재중국절경전녀성군체중연구개민수체기인내다태성위점986Ala/Ser(A986S)여골밀도화골대소적관련.방법양본위래자상해시구적285례20.0～41.9세절경전한족녀성.용쌍능X사선골밀도의측량요추화관부골밀도화골대소.용한제성편단장도다태성방법(PCR-RFLP)분석개민수체기인외현자7내적다태성위점986Ala/Ser(A986S)적다태성.유매절위점기인편단표시위A,무매절위점표시위S,기인형위AA、AS、SS.결과재중국녀성군체중,AS기인형개체흔소이결소SS기인형개체.AA화AS기인형개체간골밀도화골대소불존재현저성차이.결론개수체재개적대사중유현저적작용,해기인여골표형간적관계수요진일보이용유의의적유전표기래진행연구.
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.