Abstract
We found a novel Tru9 I restriction polymorphism in intron 8 of the vitamin D receptor (VDR) gene in healthy French Caucasians. It corresponds to a substitution of A for G at nucleotide +443 bp from the end of exon 8. The allelic frequency of G and A in 151 unrelated subjects was 0.894 and 0.106, respectively. This polymorphism is located in the reverse primer binding site of primers that have been frequently used in the literature to genotype a BsmI restriction polymorphism. The presence of the Tru9I A allele may result in allele drop-out when the BsmI restriction fragment length polymorphism (RFLP) is genotyped with the original set of primers. This novel Tru9I polymorphism may be useful for analysis of the VDR gene.
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Received: August 2, 1999 / Accepted: September 21, 1999
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Ye, WZ., Reis, A. & Velho, G. Identification of a novel Tru9 I polymorphism in the human vitamin D receptor gene. J Hum Genet 45, 56–57 (2000). https://doi.org/10.1007/s100380050011
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DOI: https://doi.org/10.1007/s100380050011
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