title: Practical application of three polymorphic microsatellites in intron 40 of the human von Willebrand factor gene.
abstract: Intron 40 of the human von Willebrand factor gene contains a region with variable-number tandem repeats (VNTR), type (ATCT)n, showing length polymorphism. In order to carry out family studies of von Willebrand's disease, we performed PCR procedures to analyze 3 previously described microsatellites from that region, both in normal individuals and in von Willebrand disease patients. Three pairs of primers were used to amplify independently nucleotides 1890-1991 (VNTR 1), 2215-2380 (VNTR 2) and 1640-1794 (VNTR 3) from intron 40. The observed heterozygosities (0.75, 0.73 and 0.86 for VNTRs 1, 2 and 3, respectively) were in good agreement with the expected heterozygosities derived from the allele frequencies (0.70, 0.73 and 0.79, respectively). Furthermore, the combination of the 3 VNTRs showed 96% of heterozygosity, which correspond with the 98% expected value under linkage equilibrium. Therefore, our conclusion is that the use of these 3 markers, especially VNTR 3, constitutes a rapid and reliable method for performing segregation studies in von Willebrand disease families.
authors.affiliation: Unidad de Coagulopatías, Congéneticas de la Comunidad Valenciana, España.
authors.forename: P
authors.initials: P
authors.lastname: Casaña
authors.forename: F
authors.initials: F
authors.lastname: Martinez
authors.forename: J A
authors.initials: JA
authors.lastname: Aznar
authors.forename: J I
authors.initials: JI
authors.lastname: Lorenzo
authors.forename: J I
authors.initials: JI
authors.lastname: Jorquera
mesh_terms: D000483:Alleles; D001483:Base Sequence; D016022:Case-Control Studies; D004247:DNA / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D005799:Genes, Dominant; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D007438:Introns; D015810:Linkage Disequilibrium; D008297:Male; D018895:Microsatellite Repeats; D008969:Molecular Sequence Data; D010375:Pedigree; D011110:Polymorphism, Genetic; D014842:von Willebrand Diseases / Q000235:genetics*; D014841:von Willebrand Factor / Q000235:genetics*
chemical_list: D014841:von Willebrand Factor; D004247:DNA