Illegitimate recombination produced a duplication within the FVIII gene in a patient with mild hemophilia A.
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.
Murru
S
S
Istituto di Clinica e Biologia dell'Età Evolutiva, Università Studi Cagliari, Italy.
Casula
L
L
Pecorara
M
M
Mori
P
P
Cao
A
A
Pirastu
M
M
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
D005169:Factor VIII; D004264:DNA Topoisomerases, Type I