Recombination between two 14-bp homologous sequences as the mechanism for gene deletion in factor IX Seattle 1.
Factor IXSeattle 1 is a 10-kb intragenic deletion identified in a family that has hemophilia B. By sequencing across the site of the deletion, we discovered at the deletion junction a 13-bp sequence (5' . . . TAGAA-GTTCACTT . . . 3') that was homologous to two 14-bp sequences 10 kb apart in introns D and F of the normal factor IX gene. The presence of these homologous sequences in two different regions of the normal gene allows us to propose that genetic recombination has occurred between the sequences, resulting in the gene deletion. The precise recombination site was able to be localized to one of 5 bp (5' . . . AGTTC . . . 3') in the middle of the homologous sequences. The exact length of the deletion is 10,000 bp.
Chen
S H
SH
Department of Pediatrics, University of Washington, Seattle 98195.
Scott
C R
CR
D001483:Base Sequence; D002872:Chromosome Deletion; D005164:Factor IX / Q000235:genetics*; D005796:Genes; D002836:Hemophilia B / Q000235:genetics*; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D011995:Recombination, Genetic; D012689:Sequence Homology, Nucleic Acid
D005164:Factor IX