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目的探讨维生素D受体(VDR)基因FokⅠ多态性与新疆维吾尔族、汉族儿童急性白血病(AL)的关系。方法采用病例对照研究设计,对新疆医科大学第一附属医院儿科AL患儿125例(维吾尔族60例,汉族65例)及130例(维吾尔族63例,汉族67例)同期健康体检儿童,用聚合酶链反应-限制性片段长度多态性分析(PCR-RFLP)法检测VDR基因FokⅠ多态性。结果新疆维吾尔族及汉族健康儿童FokⅠ的基因型及等位基因分布差异无统计学意义(χ2=3.289,P=0.193),但其等位基因分布差异有统计学意义(χ2=4.882,P=0.028)。在维吾尔族AL患儿和健康儿童中TT/CC+CT基因型分布差异无统计学意义(χ2=1.089,P=0.297),等位基因分布差异亦无统计学意义(χ2=2.133,P=0.144)。在汉族AL患儿和健康儿童中TT/CC+CT基因型分布差异有统计学意义(χ2=6.453,P=0.011),等位基因分布差异亦有统计学意义(χ2=11.239,P=0.001)。结论 VDR基因FokⅠ多态性分布在AL患儿中存在民族差异;VDR基因FokⅠ多态性与新疆维吾尔族AL患儿无明显相关性,而与汉族儿童AL的发生具有相关性。
Objective To investigate the relationship between vitamin F receptor (FDR) gene Fok Ⅰ polymorphism and Xinjiang Uygur and Han children with acute leukemia (AL). Methods A case-control study was designed. A total of 125 AL children (60 Uygur and 65 Han patients) and 130 healthy children (63 Uygur and 67 Han) were enrolled in the First Affiliated Hospital of Xinjiang Medical University. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to detect VDR gene Fok Ⅰ polymorphism. Results The genotype and allele distribution of Fok Ⅰ in Uygur and Han healthy children in Xinjiang showed no significant difference (χ2 = 3.289, P = 0.193), but the allele distribution was statistically significant (χ2 = 4.882, P = 0.028). There was no significant difference in genotypes of TT / CC + CT among Uygur children with AL and healthy children (χ2 = 1.089, P = 0.297), and there was no significant difference in allele distribution (χ2 = 2.133, P = 0.144). The distribution of TT / CC + CT genotype in Han children with AL and healthy children was significantly different (χ2 = 6.453, P = 0.011), and allelic distribution was also statistically significant (χ2 = 11.239, P = 0.001 ). Conclusion Fok Ⅰ polymorphism distribution of VDR gene is different in AL children. There is no significant correlation between VDR gene Fok Ⅰ polymorphism and Alzheimer’s disease in Xinjiang Uighur.