Distribution of Vitamin D Receptor BsmⅠ and Tru9I Site Gene Polymorphism in Children in Guangxi Region / 实用儿科临床杂志

ABSTRACT

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.