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Deletion screening in patients with Duchenne muscular dystrophy

โœ Scribed by K. Wulff; F. H. Herrmann; M. C. Wapenaar; M. Wehnert


Publisher
Springer
Year
1989
Tongue
English
Weight
439 KB
Volume
236
Category
Article
ISSN
0340-5354

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Gene deletions were screened in 49 Japanese Duchenne muscular dystrophy patients from 43 families, using the polymerase chain reaction. Enzymatic amplification was carried out on six regions prone to deletion. Fifteen of 43 families (33%) had gene deletions in at least one of the six regions. This f

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## To the Editor: In a population, when equilibrium between mutation and selection is reached, a fraction (x) of individuals affected by an X-linked recessive lethal disorder is due to new mutations [Haldane, 19351. Being p, the mutation rate in female germ cells, and v, the mutation rate in male

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The letter by on the theoretical expectations for deletional mutations in Duchenne muscular dystrophy (DMD) is very misleading. The authors base al1 of their arguments and calculations on the hypothesis that, in DMD, deletions occur exclusively or aimost exclusively by homologous recombination, and