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Replication errors may contribute to the generation of large deletions and duplications in the dystrophin gene
Author(s) -
Baldrich Katrin,
Baldrich Marco,
Monaco Anthony P.,
Müller Clemens R.
Publication year - 1992
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.1380010403
Subject(s) - biology , replication (statistics) , genetics , dystrophin , gene duplication , gene , computational biology , virology
Abstract Frequent recurrent mutations of the human dystrophin gene lead to Duchenne and Becker muscular dystrophies. Although the ˜ 2.5 Mb size of the gene may form a large targe for mutations it is not clear to date which mechanisms promote the observed high frequency of spontaneous mutants (1 in 10,000 X‐chromosomes) of which a high percentage ( > 70%) are gross structural aberrations (deletions/duplications). In order to gain insight into possible molecular mechanisms we have cloned and sequenced the deletion junction fragments from two unrelated Duchenne patients. Our data, together with a short review on other cases from the literature, present evidence that errors of DNA replication may contribute to the generation of submicroscopic chromosome rearrangements. © 1992 Wiley‐Liss, Inc.