特发性甲状旁腺功能减退症的维生素D受体基因多态性

Vitamin D receptor gene polymorphism of idiopathic hypoparathyroidism patients

目的探讨特发性甲状旁腺功能减退症(简称特发甲旁减)维生素D受体(VDR)基因3'端多态性分布。方法应用聚合酶链反应-限制性内切酶片段长度多态性分析确定106例特发甲旁减患者VDR基因型。结果VDR基因3'端各多态性位点基因分布符合Hardy-Weinberg群体遗传学定律,与健康志愿者无显著差异(P>0.05),不同基因型特发甲旁减患者身高、体重、BMI和发病年龄无显著差异(P>0.05)。结论未发现中国特发甲旁减患者VDR基因3'端多态性与健康志愿者差异有显著性,不同VDR基因型患者发病年龄及BMI差异无显著性。

【Objective】To investigate the distribution of vitamin D receptor gene 3＇-end polymorphisms in idiopathic hypoparathyroidism patients in China.【Methods】 The vitamin D receptor gene 3＇-end region genotypes were determined by polymerase chain reaction-restriction fragment length polymorphism in 106 patients of idiopathic hypoparathyroidism.【Results】The frequencies of the genotypes of vitamin D receptor gene 3＇-end polymorphism of idiopathic hypoparathyroidism were as follows：allele b：94.3%,allele a：71.2%,and allele T：95.8%.Hardy-Weinberg equilibrium was evident.There was no significant difference about the vitamin D receptor gene 3＇-end polymorphism distributions between idiopathic hypoparathyroidism patients and healthy volunteers.No differences in stature,weight,BMI and age of onset of each genotypes were found in idiopathic hypoparathyroidism patients（P0.05）.【Conclusions】There was no significant difference about the vitamin D receptor gene 3＇-end polymorphism distributions between idiopathic hypoparathyroidism patients and healthy volunteers.No differences in BMI and age of onset of each genotypes were found in idiopathic hypoparathyroidism patients.