| Objective To study the association between the single nucleotide polymorphi-sm (SNP) of vitamin D receptor gene(VDR) and vitamin D deficiency rickets of Dongxiang infants. Combined with the local geography climatic characteristics of Dongxiang to investigate the genetic susceptibility of the nationality. And, compare the two experimental methods of detecting the genotypes and gene frequencies in order to provide technical support for the related research.Methods A case-control research was performed. The subjects were divided into two groups, the case group included69cases infants with rickets and control group included72cases healthy infants, and both of them come from Dongxiang nationality. The genotype of vitamin D receptor gene ApaⅠ, BsmⅠ, TaqⅠ and FokⅠ loci were detected using the high resolution melting curve analysis (HRM) and the distribution frequency of every genotype in two groups were compared by χ2-test to study the relationship between VDR gene SNP and rickets. The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to detect the VDR gene polymorphisms ApaⅠ site in two groups. Testing the accuracy of the two methods using gene sequencing in order to compare the pros and cons of two experimental methods.Results The VDR gene ApaⅠ, BsmⅠ, TaqⅠ loci genotype were not significantly different in control group and patient group (P>0.05) and the genotype of FokⅠ site was significantly different in control group and patient group (χ2=13.716, P<0.05) in Dongxiang nationality.Conclusion There is a possibility that part of VDR FokⅠ site SNP might be correlated with infant vitamin D deficiency rickets of the Dongxiang nationality. However, the ApaⅠ, BsmⅠ, and TaqⅠ sites have nothing to do with the rickets. And, the technology of HRM is more sensitive and accurate than the PCR-RFLP method in the study of VDR gene polymorphism and rickets genetic susceptibility. |
PDF Full Text Request