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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    Journal of human genetics 45 (2000), S. 56-57 
    ISSN: 1435-232X
    Keywords: Key words Vitamin D receptor gene ; Polymorphism ; Allele drop-out ; Primer mismatch
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: 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.
    Type of Medium: Electronic Resource
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