The vitamin D receptor gene Tru I polymorphisms and its effect on the detection of Bsm I polymorphisms in Han nationality.
- Author:
Wei-jian CHEN
1
;
Wei YE
;
Pei-qiang SU
;
Yue DING
;
Yan PENG
;
An-jing LIANG
;
Dong-sheng HUANG
;
Gui-tao LI
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Aged; Alleles; Asian Continental Ancestry Group; genetics; China; ethnology; Deoxyribonucleases, Type II Site-Specific; metabolism; Ethnic Groups; genetics; Female; Genotype; Humans; Male; Middle Aged; Polymorphism, Genetic; Receptors, Calcitriol; genetics
- From: Chinese Journal of Medical Genetics 2007;24(3):338-340
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo 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.
METHODSVenous 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.
RESULTSThe 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.
CONCLUSIONThe 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.
