广西地区儿童维生素D受体基因BsmI和Tru9I酶切位点多态性分布

Distribution of Vitamin D Receptor BsmⅠ and Tru9I Site Gene Polymorphism in Children in Guangxi Region

目的了解维生素D受体(VDR)基因BsmI和Tru9I酶切位点多态性在广西地区儿童中的分布。方法应用聚合酶链反应-限制性片段长度多态性技术(PCR-RFLP)和基因测序技术,检测268名广西地区健康儿童[男143例,女125例;年龄(4.15±0.63)岁]VDR基因BsmI、Tru9I酶切位点基因型和等位基因分布频率。采用Hardy-Weinberg平衡定律对基因分布进行检验。结果268名儿童中VDR基因型为bb、Bb和BB的例数分别为246例、21例、1例,即基因型为bb、Bb和BB的频率分布分别为91.79%、7.84%、0.37%,b、B等位基因频率为95.71%、4.29%;VDR基因型为tt、Tt和TT的例数分别为12例、85例、171例,即基因型为tt、Tt和TT的频率分布分别为4.48%、31.72%、63.80%,t、T等位基因频率为20.34%、79.66%。基因测序结果与PCR-RFLP结果相符。样本经Hardy-Weinberg平衡检验具有群体代表性。结论中国广西地区儿童VDR基因BsmI、Tru9I酶切位点多态性分布频率有其自身的特点,BB和tt基因型较少见。

Objective To investigate the distribution of vitamin D receptor（VDR） gene BsmI and Tru9I site gene polymorphism in children in Guangxi region.Methods Polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） method and DNA sequencing technology were used to analyze the VDR genotype in 268 healthy children [including 143 boys and 125 girls which aged （4.15±0.63） years] in Guangxi region.Hardy-Weinberg balance analysis was used to check up the samples.Results There were 246 cases which were bb genotgpes in BsmI site and 21 cases which were Bb genotypes and 1 case which was BB genotypes in 268 cases.The frequency of bb,Bb and BB in BsmI site were 91.79%,7.84% and 0.37%,respectively.Frequencies of b and B allelic gene were 95.71% and 4.29%;There were 12 cases which were tt genotypes in Tru9I site and 85 cases which were Tt genotypes and 171 cases which were TT genotypes in all 268 cases.tt,Tt and TT in Tru9I site were 4.48%,31.72% and 63.80%,respectively.Frequencies of t and T allelic genes were 20.34% and 79.66%.The result of PCR-RFLP was according to the result of DNA sequencing.The samples had group representation through Hardy-Weinberg balance analysis.Conclusions The polymorphism frequency and distribution of VDR gene BsmI and Tru9I site gene polymorphism of children in Guangxi region of China exhibit its own characteristics.BB and tt genotypes minority.