论文部分内容阅读
目的研究山西汉族儿童维生素D受体(VDR)基因ApaI位点多态性与维生素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,为临床防治探索一条新途径。方法以血清25(OH)D3水平、骨源性碱性磷酸酶(BALP)以及临床症状和体征作为分组指标,确定佝偻病组(40例)、对照组(68例)作为研究对象。应用酶联免疫和放射免疫方法,采用聚合酶链反应和限制性片段长度多态性技术(PCRRFLP)检测VDR基因ApaI位点多态性,HardyWeinberg遗传平衡检验方法进行基因分布遗传平衡吻合度检验。结果佝偻病组AA、Aa、aa基因型分布频率分别为5.0%、52.5%和42.5%。对照组AA、Aa、aa基因型分布频率分别为4.4%、55.9%、39.7%。佝偻病组等位基因A、a分布频率分别为31.3%、68.7%,对照组等位基因A、a分布频率分别为32.3%、67.7%。VDR基因型分布频率、等位基因分布频率两组间差异无统计学意义(χ2=0.089,P>0.05;χ2=0.028,P>0.05)。两组间血清25(OH)D3水平差异有统计学意义(t=-8.919,P<0.01)。结论(1)本组汉族儿童VDR基因ApaI位点多态性分布相对较均衡,a等位基因频率为67.7%,是优势基因。(2)本组人群VDR基因多态性分布与高加索人种相比明显不同,存在种族差异。(3)提示VDR基因ApaI位点多态性在个体是否发生维生素D缺乏性佝偻病方面可能没有意义。
Objective To investigate the relationship between the ApaI polymorphism of vitamin D receptor (VDR) gene and vitamin D deficiency rickets in Shanxi Han children and to explore the significance of individual genetic factors in the pathogenesis of rickets, so as to explore a new approach for clinical prevention and treatment. Methods Serum 25 (OH) D3 level, bone alkaline phosphatase (BALP) and clinical symptoms and signs were used as the grouping indexes to determine the rickets group (40 cases) and the control group (68 cases) as the study objects. The ApaI site polymorphism of VDR gene was detected by polymerase chain reaction and restriction fragment length polymorphism (PCRRFLP), and the genetic balance of genetic distribution was tested by Hardy Weinberg genetic equilibrium test. Results The distribution frequency of AA, Aa and aa in rickets was 5.0%, 52.5% and 42.5% respectively. The distribution frequency of AA, Aa and aa in control group were 4.4%, 55.9% and 39.7% respectively. The frequencies of alleles A and a in rickets group were 31.3% and 68.7%, respectively. The frequencies of alleles A and a in control group were 32.3% and 67.7%, respectively. VDR genotype distribution frequency and allele frequency distribution between the two groups showed no significant difference (χ2 = 0.089, P> 0.05; χ2 = 0.028, P> 0.05). The difference of serum 25 (OH) D3 level between the two groups was statistically significant (t = -8.919, P <0.01). Conclusion (1) The distribution of ApaI polymorphism of VDR gene in this group of Han children is relatively balanced. The frequency of a allele is 67.7%, which is the dominant gene. (2) The distribution of VDR gene polymorphism in this group of people is obviously different from that of Caucasians, and there is racial difference. (3) This suggests that polymorphism of ApaI site of VDR gene may not be meaningful in individuals with or without vitamin D deficiency rickets.