A deletion/insertion leading to the generation of a direct repeat as a result of slipped mispairing and intragenic recombination in the factor VIII gene.
A deletion/insertion in the human factor VIII gene was found in a patient with severe hemophilia A; 316 bp were removed, viz., those enclosing part of intron 15 and the first 7 bp of exon 16. In addition to the deletion, 6 bp were added to the deletion breakpoints; this resulted in the duplication of an existing 13-bp unit. Thus, an overlapping 13-bp direct repeat was generated at the deletion junction. Moreover, the deleted fragment itself was flanked by two homologous 6-bp sequences, one unit being lost by the deletion. A combination of slipped mispairing during replication and an intragenic recombination is discussed to describe this deletion/insertion process.
Tavassoli
K
K
Institut für Humangenetik der Westfälischen Wilhelms-Universität Münster, Germany.
Eigel
A
A
Horst
J
J
D020029:Base Pairing; D001483:Base Sequence; D004247:DNA / Q000097:blood / Q000235:genetics; D004251:DNA Transposable Elements; D015252:Deoxyribonucleases, Type II Site-Specific; D005091:Exons; D005169:Factor VIII / Q000235:genetics*; D006467:Hemophilia A / Q000235:genetics*; D006801:Humans; D007438:Introns; D008214:Lymphocytes; D009690:Nucleic Acid Conformation; D016133:Polymerase Chain Reaction; D011995:Recombination, Genetic; D012091:Repetitive Sequences, Nucleic Acid; D015183:Restriction Mapping; D017384:Sequence Deletion
D004251:DNA Transposable Elements; D005169:Factor VIII; D004247:DNA; D015252:Deoxyribonucleases, Type II Site-Specific; C027046:TCGA-specific type II deoxyribonucleases