Study on the association between vitamin D receptor gene polymorphism of ApaI and BsmI and vitamin D deficiency rickets / 中国医师杂志

ABSTRACT

ObjectiveTo study the distribution characters and linkage disequilibrium of vitamin D receptor(VDR) gene ApaI and BsmI polymorphism,and explore the genetic susceptibility of VDR and vitamin D deficiency rickets.MethodsVDR gene ApaI and BsmI polymorphisms were determined by PCRRFLP technology in 56 cases of rickets and 76 cases of normal children.The frequencies of the VDR genotype and allele were compared between the two groups.The software SHEsis was used to make linkage disequilibrium analysis.Results No significant difference was found in either the frequency distribution of VDR gene ApaI and BsmI polymorphism or allele of them between two groups; Two polymorphisms didn't show linkage disequilibrium and D' and r2 were 0.23 and 0.01,respectively.ConclusionsThe ApaI and BsmI polymorphism of VDR gene might be not associated with vitamin D deficiency rickets.Two polymorphisms didn't show linkage disequilibrium.