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Human Molecular Genetics, Vol 6, 881-885, Copyright © 1997 by Oxford University Press

ARTICLES

A novel mechanism generating short deletion/insertions following slippage is suggested by a mutation in the human alpha2-globin gene

V Oron-Karni, D Filon, D Rund and A Oppenheim
Department of Hematology, Hebrew University-Hadassah Medical School, Hadassah University Hospital, Jerusalem, Israel.

A novel mechanism generating short deletion/insertions is described based on a mutation in the human alpha2-globin gene. A deletion of 9 bp (codons 39-41) is replaced by an eight nucleotide insertion, duplicating the adjacent downstream sequence. We propose that the mutation arose by slipped strand mispairing (SSM), creating a single- stranded loop, followed by DNA elongation, strand breathing and the formation of a mismatch bubble. An extensive literature search has revealed six additional deletion/insertion mutations in humans in which the inserted nucleotides come from the same DNA strand. Our model explains all six mutations, suggesting that rearrangement of a mismatch loop or bubble during DNA replication may be not uncommon.
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