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目的:研究维生素D受体基因内切酶位点多态在孕妇(南京地区)人群中的分布及其对补钙的影响。方法:采用聚合酶链反应(两对引物)扩增维生素D受体基因,再用内切酶BsmI、ApaI、TaqI消化扩增产物,然后琼脂糖凝胶电泳,紫外灯下观察分析和照相,根据带型进行VDR基因分型。骨密度测量采用单光子吸收法。结果:孕妇中等位基因B所占的比例为4.8%(48/1000),b所占的比例为95.2%(952/1000),A所占的比例为22.2%(222/1000),a所占的比例为77.8%(778/1000),T所占的比例为90.3%(903/1000),t所占的比例为9.7%(97/1000);基因型为BB:2.8%(14/500),Bb:4%(20/500),bb:93.2%(466/500),AA:4%(20/500),Aa:36.4%(182/500),aa:59.6%(298/500);TT:82.2%(411/500),Tt:16.2(81/500),tt:1.6%(8/500),符合遗传平衡定律(Hardy-Weinberglaw)即(p+q)2=1。BBAAtt=1.6%(8/500),BbAATt=2.4%(12/500),BBAaTt=1.2%(6/500),BbAaTt1.6%(8/500),bbAaTt=11%(55/500),bbAaTT=22.6%(113/500),bbaaTT=59.6%(298/500)。结论:在中国妇女中基因型BBAAtt的人具有较高的骨密度,而bbaaTT基因型的人骨密度较低,但占人群的50%以上,所以中国妇女的平均骨密度较低,大部分孕妇在孕期需要补钙,建议每天摄入600mg～1200mg。
Objective: To investigate the distribution of vitamin D receptor gene polymorphism in pregnant women (Nanjing area) and its effect on calcium supplement. Methods: The gene of vitamin D receptor was amplified by polymerase chain reaction (two pairs of primers). The amplified products were digested with endonucleases BsmI, ApaI and TaqI, then analyzed by agarose gel electrophoresis, VDR genotyping by banding. Bone density measurement using single-photon absorption method. Results: The proportion of pregnant women with B allele was 4.8% (48/1000), the proportion of b was 95.2% (952/1000), the proportion of A was 22.2% (222/1000) Accounting for 77.8% (778/1000), T accounting for 90.3% (903/1000), t accounting for 9.7% (97/1000), and genotype BB 2.8% (14 / 500), Bb 4% (20/500), bb 93.2% (466/500), AA 4% (20/500), Aa 36.4% (182/500), aa 59.6% (298/500) 500), TT: 82.2% (411/500), Tt: 16.2 (81/500) and tt: 1.6% (8/500) respectively, which is in accordance with the law of genetic balance (Hardy-Weinberglaw) . BBAAtt = 1.6% (8/500), BbAATt = 2.4% (12/500), BBAaTt = 1.2% (6/500), BbAaTt 1.6% (8/500), bbAaTt = 11% bbAaTT = 22.6% (113/500), bbaaTT = 59.6% (298/500). Conclusions: People with genotype BBAAtt in Chinese women have higher BMD, while those with bbaaTT genotype have a lower BMD, but account for more than 50% of the population. Therefore, the average BMD of Chinese women is lower, Need calcium during pregnancy, it is recommended daily intake of 600mg ~ 1200mg.