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[目的]明确我国北方汉族人维生素D受体基因(vitamin dreceptor gene,VDR)BsmI位点多态性分布及与发育性髋关节发育不良(developmental dysplasia of the hip,DDH)的相关性。[方法]采用PCR-测序的方法,对54个DDH患儿及55个正常儿的VDR基因BsmI位点进行分型。采用精确概率的x2检验,比较病例组及对照组中等位基因及基因型频率分布的差异。并把正常组与文献报道的不同人群该位点的多态性分布情况相比较,以了解VDR基因BsmI位点多态性在不同种族人群中的差异。[结果]VDR基因BsmI位点的基因型及等位基因频率分布,在DDH组与对照组之间均无明显的统计学差异(P值分别为0.527和0.428);我国北方汉族人该位点的基因型以GG为主,与美国人、澳洲人及法国人均存在明显的统计学差异(P<0.01)。[结论]VDR基因BsmI位点基因型分布存在人群差异;该位点多态性与我国北方汉族人DDH的发生可能无关。
[Objective] To investigate the relationship between polymorphism distribution of BsmI at developmental dysplasia of the hip (DDH) and vitamin d receptor gene (VDR) in northern Han Chinese. [Methods] The BsmI sites of VDR gene in 54 children with DDH and 55 normal children were genotyped by PCR-sequencing. The exact probability of x2 test was used to compare the frequency distribution of alleles and genotypes between cases and controls. The normal group was compared with the distribution of polymorphism at different loci reported in the literature to find out the differences of BsmI polymorphism of VDR gene in different ethnic groups. [Results] The frequencies of genotypes and alleles of BsmI sites in VDR gene were not significantly different between DDH group and control group (P values were 0.527 and 0.428, respectively). In northern Han Chinese, The genotypes of GG were mainly GG, with significant differences (P <0.01) with those of Americans, Australians and French. [Conclusion] There are population differences in the genotype distribution of BsmI locus in VDR gene. The polymorphism of this site may not be related to the occurrence of DDH in northern Han Chinese.