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Germline and somatic mosaicism in a female carrier of Duchenne muscular dystrophy

✍ Scribed by David J. Bunyan; David O. Robinson; Amanda L. Collins; Annette E. Cockwell; Hilary M. S. Bullman; Paul A. Whittaker

Publisher: Springer
Year: 1994
Tongue: English
Weight: 516 KB
Volume: 93
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00202820

No coin nor oath required. For personal study only.

✦ Synopsis

The family of a male with Duchenne muscular dystrophy (DMD) and a deletion within the dystrophin gene has been studied. Polymerase chain reaction analysis of ectopic mRNA from peripheral blood T+B lymphocytes and the use of (CA) n repeat polymorphisms in and around the deleted region showed the proband's mother to be both a germline mosaic and a somatic mosaic for the deletion seen in her son. The mutation therefore occurred as a mitotic event early in embryogenesis.

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