title: Characterization of polymorphic markers in the von Willebrand factor gene and pseudogene.
abstract: Three TaqI restriction fragment length polymorphisms (RFLP) detected by the central portion of von Willebrand factor cDNA, which recognizes the true gene and in addition pseudogenic sequences, were characterized and mapped. Small cDNA fragments which hybridized with DNA from families with von Willebrand disease were used. Two of the RFLP, recognized by 1.7 and 0.45 kb cDNA fragments, are not in linkage either with von Willebrand disease or with RFLP located in the von Willebrand factor (vWF) gene, which indicates their pseudogenic location. These markers located in 22q11, near to the bcr gene, provide new tools for the study of several somatic and constitutional alterations affecting this chromosomal region. The third RFLP is recognized by a cDNA fragment corresponding to the N-terminal portion of mature vWF and is localized in the true gene. Since significant linkage disequilibrium with other informative RFLP is not present, this marker contributes to the definition of family haplotypes associated with von Willebrand disease.
authors.affiliation: Centro Studi Biochimici delle Patologie del Genoma Umano, Istituto di Chimica Biologica, Università di Ferrara, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Bernardi
authors.forename: G
authors.initials: G
authors.lastname: Marchetti
authors.forename: A
authors.initials: A
authors.lastname: Casonato
authors.forename: D
authors.initials: D
authors.lastname: Gemmati
authors.forename: P
authors.initials: P
authors.lastname: Patracchini
authors.forename: C
authors.initials: C
authors.lastname: Legnani
authors.forename: V
authors.initials: V
authors.lastname: DeRosa
authors.forename: A
authors.initials: A
authors.lastname: Girolami
authors.forename: F
authors.initials: F
authors.lastname: Conconi
mesh_terms: D015139:Blotting, Southern; D005260:Female; D005796:Genes / Q000235:genetics*; D005819:Genetic Markers / Q000032:analysis; D006487:Hemostasis / Q000235:genetics; D006801:Humans; D008297:Male; D010375:Pedigree; D011110:Polymorphism, Genetic / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D011544:Pseudogenes / Q000235:genetics; D014841:von Willebrand Factor / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D014841:von Willebrand Factor