Xi Wei-ping, Yang Jian-ping, Li Lian-qing, Zhu Qing-yi, Zhou Xiang-hong
Department of Child Health Care, Shanxi Children's Hospital, Taiyuan 030013, China.
Zhonghua Er Ke Za Zhi. 2005 Jul;43(7):514-6.
To study the association between vitamin D receptor (VDR) gene Apa I polymorphism and vitamin D deficiency rickets in children of Shanxi Han ethnic group, and to explore the significance of individual hereditary factors in the development of rickets.
This was a case control study. The grouping criteria were serum 25(OH)D(3) level, blood bone alkaline phosphatase and clinical symptom, respectively. The laboratory test methods were enzyme linked immunoassay and radioimmunoassay. PCR-RFLP technology was applied to examine VDR gene Apa I site polymorphism and Hardy-Weinberg hereditary balance test was used to examine the coincidence of gene distribution.
Frequencies of AA, Aa and aa genotypes were 5.0%, 52.5% and 42.5% in the rickets group and 4.4%, 55.9% and 39.7% in the control group, respectively. Frequencies of A and a genotypes were 31.3% and 68.7% in the rickets group and 32.3% and 67.7% in the control group, respectively. There was not significant difference in the frequency distribution of VDR genotype and allelic genes between two groups (chi(2) = 0.089, P > 0.05; chi(2) = 0.028, P > 0.05). There was significant difference in the serum 25(OH)D(3) between two groups (t = -8.919, P < 0.01).
The distribution of VDR gene Apa I polymorphism in children of Han ethnic group is balanced relatively. The Frequency of a allelic genes is 67.7% which is therefore the superior gene. VDR gene polymorphism might not be important in an individual's susceptibility to development of vitamin D deficiency.
研究维生素D受体（VDR）基因Apa I多态性与山西汉族儿童维生素D缺乏性佝偻病的关系，探讨个体遗传因素在佝偻病发病中的意义。
本研究为病例对照研究。分组标准分别为血清25（OH）D（3）水平、血骨碱性磷酸酶及临床症状。实验室检测方法采用酶联免疫法和放射免疫法。应用PCR-RFLP技术检测VDR基因Apa I位点多态性，采用Hardy-Weinberg遗传平衡检验检测基因分布的吻合度。
佝偻病组AA、Aa和aa基因型频率分别为5.0%、52.5%和42.5%，对照组分别为4.4%、55.9%和39.7%。佝偻病组A和a基因型频率分别为31.3%和68.7%，对照组分别为32.3%和67.7%。两组VDR基因型及等位基因频率分布差异无统计学意义（χ² = 0.089，P > 0.05；χ² = 0.028，P > 0.05）。两组血清25（OH）D（3）水平差异有统计学意义（t = -8.919，P < 0.01）。
汉族儿童VDR基因Apa I多态性分布相对平衡。a等位基因频率为67.7%，为优势基因。VDR基因多态性可能对个体维生素D缺乏易感性影响不大。
