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 |
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Authors: | Kamiab Tavassoli Antonin Eigel Jürgen Horst |
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Institution: | Institut für Humangenetik der Westf?lischen Wilhelms-Universit?t Münster, Vesaliusweg 12–14, D-48149 Münster, Germany Fax: +49 251 8355431, DE
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Abstract: | 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.
Received: 4 January 1999 / Accepted: 22 March 1999 |
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