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目的 探讨维生素D受体基因多态性与维生素D缺乏性佝偻病(佝偻病)遗传易感性的关系.方法 应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)分析技术检测2003年10月至2004年10月159例佝偻病患儿和78名健康儿童(对照组)VDR基因Bsm Ⅰ位点的多态性,比较两组之间VDR基因型和基因分布.结果 佝偻病患儿和对照组儿童的VDR基因Bsm Ⅰ位点基因型分布分别为:BB(0%),Bb(15.7%),bb(84.3%)和BB(0%),Bb(11.5%),bb(88.5%),两组间差异无统计学意义(P>0.05);佝偻病患儿和对照组儿童的VDR基因BsmⅠ位点等位基因分布分别为:B(7.9%),b(92.1%)和B(5.8%),b(94.2%),两组间差异无统计学意义(P>0.05).结论 VDR基因Bsm Ⅰ酶切住点的多态性与维生素D缺乏性佝偻病的遗传易感性相关关系尚须大样本进一步确定.

Study on the association between vitamin D receptor gene polymorphisms and rickets

??Objective??To study the relationship between vitamin D receptor gene polymorphisms and the hereditary susceptibility of vitamin D deficiency rickets. Methods??PCR-RFLP analyzes the technology using the polymerase chain reaction-restrictive fragment length multi-state properties to examine 159 examples vitamins D deficiency rickets child and 78 examples normal children ??comparison group ?? the vitamin D accept or ??VDR?? the gene Bsm I spot multi-state properties ?? compared with two group of between?? VDR gene and gene frequency. Results?? Vitamin D deficiency rickets sickness and comparison group child??s VDR the gene Bsm I spot gene distribution frequency respectively is?? BB ??0%???? Bb??15.7%???? bb??84.3%?? and BB??0%???? Bb??11.5%???? bb??88.5%???? two group of between difference not remarkable statistics significance ??P > 0.05???? vitamin D deficiency rickets sickness and comparison group child??s VDR the gene Bsm I spot allele distribution frequency respectively is?? B??7.9%???? b??92.1%???? with B??5.8%????b??94.2%?? two group of between difference not remarkable statistics significance ??P > 0.05?? Conclusion??VDR the gene Bsm I enzyme cuts the position spot the multi-state properties possibly to have nothing to do with the vitamin D deficiency rickets heredity easy perception .