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Last updated: July 2001 |
Facioscapulohumeral muscular dystrophy |
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deletion mechanism |
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We
demonstrated that the partial D4Z4 repeat array deletion occurs in at
least 40% of cases mitotically, i.e. after fertilization. Moreover, the
presence of translocated D4Z4 repeats on chromosome 10qter is a
predisposing factor for the deletion. We therefore hypothesize that
partial D4Z4 deletions likely occur by interchromosomal repeat exchanges
between identical repeat arrays. However, the mechanism underlying these
deletion is not known in detail. Current studies are aiming at a better
understanding of the timing and mechanism by which these deletions
occur. More information: Silvère van der Maarel, Ph.D. E-mail: maarel@lumc.nl).
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