title: Identification of a novel Tru9 I polymorphism in the human vitamin D receptor gene.
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.
authors.affiliation: INSERM U-342, Hôpital Saint-Vincent-de-Paul, Paris, France.
authors.forename: W Z
authors.initials: WZ
authors.lastname: Ye
authors.forename: A F
authors.initials: AF
authors.lastname: Reis
authors.forename: G
authors.initials: G
authors.lastname: Velho
mesh_terms: D002881:Chromosomes, Human, Pair 12; D017931:DNA Primers; D005602:France / Q000453:epidemiology; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D018167:Receptors, Calcitriol / Q000235:genetics*; D044465:White People / Q000235:genetics
chemical_list: D017931:DNA Primers; D018167:Receptors, Calcitriol