title: Illegitimate recombination produced a duplication within the FVIII gene in a patient with mild hemophilia A.
abstract: We have characterized an unusual duplication of exon 13 within the factor VIII gene in a patient with a mild form of hemophilia A. This duplication was the result of a nonhomologous breakage and reunion event of two misaligned wild-type chromosomes. Sequence analysis of the breakpoint region revealed the presence of AT-rich sequences and possible topoisomerase I sites, whose involvement in several cases of illegitimate recombination has been postulated.
authors.affiliation: Istituto di Clinica e Biologia dell'Età Evolutiva, Università Studi Cagliari, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Murru
authors.forename: L
authors.initials: L
authors.lastname: Casula
authors.forename: M
authors.initials: M
authors.lastname: Pecorara
authors.forename: P
authors.initials: P
authors.lastname: Mori
authors.forename: A
authors.initials: A
authors.lastname: Cao
authors.forename: M
authors.initials: M
authors.lastname: Pirastu
mesh_terms: D001483:Base Sequence; D003001:Cloning, Molecular; D004264:DNA Topoisomerases, Type I / Q000378:metabolism; D005091:Exons; D005169:Factor VIII / Q000235:genetics*; D005796:Genes; D006467:Hemophilia A / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D005810:Multigene Family; D011995:Recombination, Genetic; D015183:Restriction Mapping
chemical_list: D005169:Factor VIII; D004264:DNA Topoisomerases, Type I