title: Identification of newly polymorphic intron 40 markers of the von Willebrand factor gene in a Japanese population.
abstract: We investigated a region of repetitive DNA located in intron 40 of the von Willebrand factor (vWF) gene (nucleotides [nt] 1639-2404; i.e., F8VWF). We identified 13 alleles and 33 genotypes in 49 unrelated Japanese individuals. The heterozygosity of the region was 0.897. Direct sequence analyses revealed five single-base substitutions, one tetranucleotide (TTAT) insertion, and seven short tandem repeats (STRs) in the intron; four of the STRs and one single-base substitution had been reported previously. The four new base substitutions we identified were 1849T>A, 2122C>T, 2180C>T, and 2192C>T. The novel TTAT tetranucleotide was inserted between nt 2057 and 2058. The three newly identified STRs were 1978(TATC)(1-2), 2193(ATCT)(5-13), and 2234(TGTA)(5-7). The five single-base substitutions and the TTAT insertion were identified only with 3' downstream of vWA allele 14.
authors.affiliation: Department of Legal Medicine, Osaka Medical College, 2-7 Takatsuki, Osaka 569-8686, Japan. leg003@art.osaka-med.ac.jp
authors.forename: Akiyoshi
authors.initials: A
authors.lastname: Tamura
authors.forename: Misa
authors.initials: M
authors.lastname: Iwata
authors.forename: Shinya
authors.initials: S
authors.lastname: Fukunishi
authors.forename: Hajime
authors.initials: H
authors.lastname: Nishio
authors.forename: Koichi
authors.initials: K
authors.lastname: Suzuki
mesh_terms: D000483:Alleles; D004247:DNA / Q000235:genetics*; D005260:Female; D005819:Genetic Markers / Q000235:genetics*; D005828:Genetics, Population; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D007438:Introns; D007564:Japan; D008297:Male; D018895:Microsatellite Repeats; D010334:Paternity; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D014842:von Willebrand Diseases / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D004247:DNA