维生素D受体基因多态性与佝偻病关系的研究  

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

作　　者：徐凤兰[1] 邢玉凤[1] 孙广丰[1] 于晓波[1] 朱金玲[2] 

机构地区：[1]黑龙江省佳木斯市妇幼保健院儿科,黑龙江佳木斯154002 [2]佳木斯大学基础医学院生物教研室,黑龙江佳木斯154007

出　　处：《中国实用儿科杂志》2009年第3期212-213,216,共3页Chinese Journal of Practical Pediatrics

摘　　要：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BsmⅠ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BsmI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BsmⅠ酶切位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。Objective To study the relationship between vitamin D receptor gene polymorphisms and the hereditary sus- ceptibility 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 rick- ets 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 remark- able 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 l en- zyme cuts the position spot the multi-state properties possibly to have nothing to do with the vitamin D deficiency rickets heredity easy perception.

关 键 词：维生素D受体 基因多态性 佝偻病 

分 类 号：R72[医药卫生—儿科]