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© 1993 Oxford University Press

RESEARCH-ARTICLE

FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit

Judith C.T.Van Deutekom1,2, Cisca Wljmenga1,2, Esther A.E.Van Tlenhoven1, Anne-Marie Gruter1,2, Jane E. Hewitt3, George W. Padberg2,+, Gert-Jan. B.van Ommen1, Marten H. Hofker1 and Rune R. Fronts1,*

1MGC—Department of Human Genetics, Leiden University Wassenaarseweg 72, 2333 AL Leiden, The Netherlands 2Department of Neurology, Leiden University Wassenaarseweg 72, 2333 AL Leiden, The Netherlands 3Department of Structural and Cell Biology, University of Manchester Manchester, UK

*To whom correspondence should be addressed

Received July 23, 1993; Revised September 27, 1993; Accepted September 27, 1993

Facloscapulohumeral muscular dystrophy (FSHD) is a neuromuscular disorder characterized by progressive weakness of the facial, shoulder and upper arm muscles. The disease is associated with DNA rearrangements which are detectable using probe p13E-11 (D4F104S1) in DNA digested with EcoRI or other restriction enzymes. We have cloned and characterized the rearranged EcoRI fragment of four unrelated FSHD patients. Restriction fragment mapping and DNA sequence analysis showed that the proximal and distal parts of the EcoRI fragment, which flank a region of tandemly repeated 3.2 kb units, are identical in normal and rearranged EcoRI fragments. These results strongly support the hypothesis that the FSHD associated rearrangements are due to deletions of Integral copies of the 3.2 kb repeated unit. Since these repeated units are likely to form part of the FSHD transcription unit, the variation in repeat unit number might affect the function of the gene product. Hence, our data confine the FSHD gene region and thus provide a starting point for cloning the FSHD gene.


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