Germinal mosaicism from grand-paternal origin in a family with Duchenne muscular dystrophy

We have identified a Duchenne muscular dystrophy (DMD) pedigree with an unexpected pattern of inheritance. Using marker restriction fragment length polymorphisms detected by probes that lie within and outside the DMD gene, we could demonstrate that the maternal grandfather has transmitted two distin...

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Bibliographic Details
Published inHuman genetics Vol. 86; no. 2; p. 241
Main Authors Claustres, M, Kjellberg, P, Desgeorges, M, Bellet, H, Demaille, J
Format Journal Article
LanguageEnglish
Published Germany 01.12.1990
Subjects
DNA Probes
Female
Humans
Male
Mosaicism
Muscular Dystrophies - genetics
Pedigree
Polymorphism, Restriction Fragment Length
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Summary:We have identified a Duchenne muscular dystrophy (DMD) pedigree with an unexpected pattern of inheritance. Using marker restriction fragment length polymorphisms detected by probes that lie within and outside the DMD gene, we could demonstrate that the maternal grandfather has transmitted two distinct types of X chromosomes to his offspring. This original observation may be explained by postulating that the DMD mutation must have occurred during mitosis in early germline proliferation, leading to a germline mosaicism within this male ancestor.
ISSN:0340-6717
DOI:10.1007/BF00197714