[The vitamin D receptor gene Tru I polymorphisms and its effect on the detection of Bsm I polymorphisms in Han nationality].
OBJECTIVE
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.


METHODS
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.


RESULTS
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.


CONCLUSIONS
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.
Chen
Wei-jian
WJ
Department of Orthopaedics, Second Affiliated Hospital, Sun Yat-sen University, Guangzhou, Guangdong, 510120 PR China.
Ye
Wei
W
Su
Pei-qiang
PQ
Ding
Yue
Y
Peng
Yan
Y
Liang
An-jing
AJ
Huang
Dong-sheng
DS
Li
Gui-tao
GT
D000328:Adult; D000368:Aged; D000483:Alleles; D044466:Asian People / Q000235:genetics*; D002681:China / Q000208:ethnology; D015252:Deoxyribonucleases, Type II Site-Specific / Q000378:metabolism*; D005006:Ethnicity / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D018167:Receptors, Calcitriol / Q000235:genetics*
D018167:Receptors, Calcitriol; C053864:endodeoxyribonuclease BsmI; D015252:Deoxyribonucleases, Type II Site-Specific