Mammalian Genome 9, 485–487 (1998). Incorporating Mouse Genome © Springer-Verlag New York Inc. 1998 Six transcripts map within 200 kilobases of the myotonic dystrophy expanded repeat 1 1,2 3 1,2 Madawi Alwazzan, Marion G. Hamshere, Greg G. Lennon, J. David Brook Department of Genetics, University of Nottingham, Queen’s Medical Centre, Nottingham NG7 2UH, UK Centre for Medical Genetics, City Hospital NHS Trust, University of Nottingham, Nottingham NG6 1PB, UK Lawrence Livermore National Laboratory, California 94550, USA Received: 28 October 1997 / Accepted: 4 February 1998 Myotonic dystrophy (DM) is an autosomal dominant neuromus- clones l36 and l20 (Fig. 1). Sequence analysis of p20D7-FC4 (1.6 cular disorder characterized by a highly variable clinical pheno- kb) and p20D7-SN10 (0.8 kb) indicates that the latter clone is type. Symptoms include myotonia, progressive weakness and contained entirely within the former, and p20D7-FC4 contains a wasting of muscles, cardiac conduction defects, cataracts, and dia- long poly A stretch indicative of the 38 end of the transcript. This betes (Harper 1989). The underlying genetic mutation in this dis- gene has been designated 20D7. There is a strong Kozak consensus ease is an expanded triplet repeat sequence (CTG) located within sequence (Kozak 1987) at nucleotides 29
Mammalian Genome – Springer Journals
Published: Jun 1, 1998
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