维生素D受体基因FokⅠ、TaqⅠ多态性与女性婴幼儿佝偻病的相关性

Correlation between Vitamin D Receptor Gene FokⅠ,TaqⅠ Polymorphism and Rickets in Female Infants

目的研究维生素D受体(VDR)基因FokⅠ、TaqⅠ多态性分布及其与女性婴幼儿维生素D缺乏性佝偻病的关系,探讨其临床意义。方法选择男性婴幼儿58例为佝偻病男童组,女性婴幼儿佝偻病60例为佝偻病女童组;健康男、女性婴幼儿62、58例分别为健康对照男童组及女童组;应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)分析等技术测定各组VDR基因FokⅠ、TaqⅠ多态性,分别比较4组VDR基因FokⅠ、TaqⅠ多态性分布频率。采用SPSS13.0软件进行统计学分析。结果佝偻病女童组与各对照组间比较,VDR的TaqⅠ基因型和等位基因分布频率均无显著性差异(Pa>0.05)。FokⅠ基因型和等位基因分布频率在佝偻病女童组与健康对照女童组和健康对照男童组比较均有显著性差异(P=0,0,0.001,0.002);佝偻病女童组与佝偻病男童组比较无显著性差异(P>0.05)。结论VDR基因部分位点多态性可能与女性婴幼儿佝偻病显著相关;VDR基因多态性在婴幼儿佝偻病中无性别差异。

Objective To study vitamin D receptor（VDR） gene Fok Ⅰ,Taq Ⅰpolymorphism distribution, and to explore the relationship between FokⅠ,Taq Ⅰand vitamin D deficiency rickets in female infants,and its clinical significance. Methods The subjects were composed of 4 groups ：60 cases of female infants with rickets,58 cases of male infants with rickets ;58 cases of the healthy female infants and 62 cases of healthy male infants for the control groups. The Fok Ⅰ,Taq Ⅰgenotypes of the 4 groups were determined by using polymerase chain reaction - restriction fragment length polymorphism（ PCR - RFLP） technique, its＇ polymorphism of the frequency was compared among the 4 groups. SPSS 13.0 software was used to analyze the data. Results The VDR Taq Ⅰgenotype and allele frequency in the group of ric-kets girls and control groups were not significantly different （ Pa〉 0.05 ）. There was significant difference in the frequencies distribution of Fok Ⅰgenotypes and allele frequency among the group of rickets girls and control groups of healthy girls, healthy boys （ P = 0,0,0. 001,0. 002 ） but not between the group of ricket＇s girls and the control group of ricket＇s boys （ P 〉 0.05 ）. Conclusions There is a possibility that part of VDR gene polymorphism might be correlated with female infant vitamin D deficiency rickets significantly; The VDR gene polymorphism in infants rickets has no gender differences.