摘要
目的遗传因素是否参与维生素D缺乏性佝偻病目前尚未明了。拟通过研究维生素D受体基因多态性与维生素D缺乏性佝偻病易感性的相关性,探讨维生素D缺乏性佝偻病的遗传易感性。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159例维生素D缺乏性佝偻病儿童和78例正常儿童(对照组)维生素D受体(VDR)基因FokI位点的多态性,比较两组之间VDR基因型和等位基因的频率。结果维生素D缺乏性佝偻病患儿和对照组儿童的VDR基因FokI位点基因型分布频率分别为:FF(37%),Ff(51%),ff(12%)和FF(18%),Ff(55%),ff(27%),两组之间的差异有显著性(χ20.01(2)=9.210,χ2=13.3880,P<0.01);佝偻病患儿和对照组儿童的VDR基因FokI位点等位基因分布频率分别为:F(63%),f(37%)和F(46%),f(54%),两组之间的差异有显著性(χ2=6.18,P<0.05)。佝偻病患儿F等位基因分布频率明显高于对照组人群(63%vs46%)两组之间的差异有显著性;而佝偻病患儿f等位基因频率显著低于对照组(37%vs 54%)。结论VDR基因FokI酶切位点的多态性可能与维生素D缺乏性佝偻病的遗传易感性有关。
Objective To explore the genetic susceptibility of children to vitamin D deficiency rickets through studying the association between Vitamin D receptor（VDR） gene polymorphism and vitamin D deficiency rickets. Methods One hundred and fifty-nine children （ 100 boys and 59 girls, aged 0 to 2 years） , with new-onset vitamin D deficiency rickets were enrolled. The patients sampled from a community of Jiamusi City, Heilongjiang Province. Seventy-eight healthy age-matched children （46 boys and 32 girls） were used as the controls. VDR gene polymorphism （cleaved by restriction endonuclease FokI） was analyzed by polymerase chase reaction-restriction fragment length polymorphism （PCR- RFLP）. The frequencies of the VDR genotype and allele were compared between the two groups. Results The frequencies of FF, Ff and ff genotypes were 37% , 51% and 12% in the Rickets group, and 18%, 55% and 27% in the Control group. A significant difference was found in the frequency distribution of the VDR genotype between the two groups 2X^2 （X0.01^2（2） = 9.210,X^2=13. 3880, P 〈0.01 ）. In the Rickets group, f allele frequency was lower （ 37% vs 54% ）, while the F allele was more common than the Control group （63% vs 46% ）. Conclusions There is an association between the VDR gene Fok I polymorphism and vitamin D deficiency rickets. The individuals with the F allele are more susceptible to vitamin D deficiency rickets.
出处
《中国当代儿科杂志》
CAS
CSCD
2006年第2期121-124,共4页
Chinese Journal of Contemporary Pediatrics
基金
本课题受上海市重点学科建设项目(编号:T0204)
上海市高等学校青年基金项目资助(编号:02BQ21)
