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目的:探讨女性人群维生素D受体(VDR)基因5’端转录起始位点FokI多态性对VDR蛋白水平的影响。方法:以229例女性人群作为研究对象,采用PCR-RFLP检测其VDR基因FokI位点多态性,ELISA检测血浆VDR蛋白水平。结果:FokI位点基因型符合H-W平衡检验;基因型以杂合子Ff为主,占50.26%;FF基因型女性的血浆VDR水平为82.67±34.14 pmol/ml,显著低于Ff(103.78±17.48 pmol/ml)或ff基因型(114.73±53.00 pmol/ml);VDR水平与年龄明显相关。结论:女性人群VDR基因FokI多态性与血浆VDR蛋白水平相关,FF基因型具有较低的VDR水平。
Objective: To investigate the effect of FokI polymorphism at the 5 ’end of VDR gene on VDR protein in female population. Methods: A total of 229 female subjects were enrolled in this study. PCR-RFLP was used to detect the Fokl polymorphism of VDR gene. Plasma VDR protein was detected by ELISA. Results: The genotype of FokI locus was in accordance with the HW balance test. The genotype was predominantly heterozygous Ff, accounting for 50.26% of the total. The FFV genotype of female was 82.67 ± 34.14 pmol / ml, significantly lower than that of Ff (103.78 ± 17.48 pmol / ml) or ff genotype (114.73 ± 53.00 pmol / ml); VDR levels were significantly correlated with age. CONCLUSION: The FokI polymorphism of VDR gene in female population is correlated with plasma VDR protein level, whereas FF genotype has lower VDR level.