摘要
目的研究维生素D受体(VDR)基因ApaI位点多态性与婴幼儿佝偻病的相关性,探讨其遗传易感性,为临床早期诊断治疗提供理论依据。方法采用病例对照研究方法,选择确诊的佝偻病患儿56例和正常婴幼儿76例作为研究对象。应用聚合酶链反应-限制性片段长度多态性分析检测VDR基因ApaI位点的多态性,比较两组之间的VDR基因型频率、等位基因频率以及VDR基因型中相关指标的相关性。结果病例组VDR基因ApaI位点基因型分布频率AA为14.3%、Aa为46.4%、aa为39.3%,对照组AA为13.3%,Aa为50%,aa为36.8%,两组之间差异无统计学意义;病例组VDR基因ApaI位点等位基因分布频率A为37.5%,a为62.5%,对照组A为38.2%,a为61.8%,两组之间差异无统计学意义;两组之间VDR基因ApaI位点不同基因型之间血清钙水平不同(X^2=6.719,P<0.05)。结论VDR基因ApaI基因型与血清钙水平有相关性,VDR基因ApaI酶切位点的多态性与婴幼儿佝偻病无相关性。
Objective To study the association between vitamin D receptor （VDR） gene ApaI polymorphism and vitamin D deficiency rickets in infants and to explore their genetic suscepti- bility. Methods Case-control study was adapted to choose 56 confirmed cases of infants with rickets （case group） and 76 cases of normal infants （control group） as the subjects. Polymerase chain reaction-restriction fragment length polymorphism technology was applied to examine VDR gene ApaI site polymorphism. The fl＇equencies of the VDR genotype and allele between the two groups and the correlation between VDR genotype and clinical index were compared. Results Frequencies of AA, Aa and aa genotypes were 14.3%, 46.4% and 39.3% in the rickets group, and 13.3%, 50% and 36.8% in the control group respectively. Frequencies of A, a alleles were 37.5%, 62.5% in the rickets group and 38.2%, 61.8% in the control group. No significant difference was found in either the frequency distribution of this VDR genotype or this allele （A or a） between two groups. There was significant difference in serum calcium level at ApaI genotype of the VDR gene. Conclusion VDR gene polymorphism ApaI is associated with serum calcium levels. VDR gene polymorphism ApaI doesn＇t seem to pose risk on children in developing vitamin D deficiency rickets.
出处
《兰州大学学报（医学版）》
CAS
2009年第4期1-4,共4页
Journal of Lanzhou University（Medical Sciences）
基金
甘肃省科技攻关计划项目(GSO12-A43-090)
兰州大学医学科研基金(LZUYX200656)
