Origin of new mutations in Duchenne muscular dystrophy

Laura Roncuzzi, Alessandra Ferlini, Adriana Pirozzi, G. Romeo

Research output: Contribution to journalArticlepeer-review

Abstract

Nine unrelated pedigrees in which Duchenne muscular dystrophy (DMD) was not present in more than one sibship were studied, using 6 DNA polymorphisms closely linked to the DMD gene. The reconstruction of grandparental haplotypes indicates the occurrence of at least three new mutations, two in grandpaternal chromosomes and one in a grandmaternal chromosome. Two additional (but less well documented) new mutations might have occurred respectively in a grandfather's and in a grandmother's chromosome, the latter being represented by a deletion mutation. The new mutations detected in this study therefore add to a total of either three or five out of nine apparently independent mutations present in pedigrees without recurrence of the disorder.

Original languageEnglish
Pages (from-to)456-460
Number of pages5
JournalHuman Genetics
Volume74
Issue number4
DOIs
Publication statusPublished - Dec 1986

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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