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Indian Journal of Human Genetics
Medknow Publications on behalf of Indian Society of Human Genetics
ISSN: 0971-6866
EISSN: 0971-6866
Vol. 9, No. 2, 2003, pp. 51-54
Bioline Code: hg03011
Full paper language: English
Document type: Research Article
Document available free of charge

Indian Journal of Human Genetics, Vol. 9, No. 2, 2003, pp. 51-54

 en Study of vitamin-D receptor (VDR) gene start codon polymorphism (Fok I) in healthy individuals from North India
H. K. Bid, R. D. Mittal


The vitamin D receptor (VDR) gene Fok I polymorphism represents a strong positional candidate susceptibility gene for different diseases like Prostate cancer, Urolithiasis, Inflammatory bowl disease and Osteoporosis. This genetic variation has also been of great interest due to its possible association with polygenic diseases. Allelic frequencies of the F/f start codon polymorphism of VDR gene vary among populations but there is no data regarding its distribution from India. The present study was carried out to determine the normal distribution of VDR gene Fok I polymorphism by using a PCR-based restriction analysis in unrelated normal healthy individuals from North India. We obtained an allelic frequency of 71.5% and 28.5% for (F) and (f) allele and the percentage of genotypes FF, Ff and ff as 46%, 51% and 3% respectively. Our results suggest that the frequency and distribution of this polymorphism in Indian population is substantially different from other populations and ethenic groups.

VDR gene, SNP, Genetic polymorphism

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