The vitamin D receptor gene Tru I polymorphisms and its effect on the detection of Bsm I polymorphisms in Han nationality / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To explore the polymorphisms of vitamin D receptor (VDR) gene Tru I polymorphisms and the influence of this variation on Bsm I polymorphisms in Han nationality.</p><p><b>METHODS</b>Venous blood samples from 80 healthy individuals of Han nationality were collected and genomic DNA was extracted, VDR Bsm I and Tru I were tested by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) to analyze the polymorphisms of VDR gene; After using another primers to test VDR Bsm I in the same samples, the consistence of each method was assessed.</p><p><b>RESULTS</b>The frequencies of the VDR Tru I genotype in the groups were TT 68.7%, Tt 26.3%, tt 5.0%; VDR Bsm I were BB 6.2%, Bb 52.5%, bb 41.3%; Both polymorphisms were under Hardy-Weinberg equilibrium. After using another pair of primer, the frequencies of Bsm I genotype were BB 20.0%, Bb 26.2%, bb 53.8%, 22 genotype Bb changed to genotype BB or genotype bb in comparison with the result of first detection.</p><p><b>CONCLUSION</b>The VDR Tru I polymorphism is found in the Han nationality, the distribution of this site's polymorphism is different from that of other nationalities. The presence of Tru I variation can result in some allele of Bsm I genotype drop-out in some study.</p>