Origin of new mutations in Duchenne muscular dystrophy

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

Research output: Contribution to journalArticle

6 Citations (Scopus)

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

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Duchenne Muscular Dystrophy
Mutation
Chromosomes
Pedigree
Sequence Deletion
Haplotypes
Recurrence
DNA
Genes
Grandparents

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Origin of new mutations in Duchenne muscular dystrophy. / Roncuzzi, Laura; Ferlini, Alessandra; Pirozzi, Adriana; Romeo, G.

In: Human Genetics, Vol. 74, No. 4, 12.1986, p. 456-460.

Research output: Contribution to journalArticle

Roncuzzi, L, Ferlini, A, Pirozzi, A & Romeo, G 1986, 'Origin of new mutations in Duchenne muscular dystrophy', Human Genetics, vol. 74, no. 4, pp. 456-460. https://doi.org/10.1007/BF00280507
Roncuzzi, Laura ; Ferlini, Alessandra ; Pirozzi, Adriana ; Romeo, G. / Origin of new mutations in Duchenne muscular dystrophy. In: Human Genetics. 1986 ; Vol. 74, No. 4. pp. 456-460.
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