Rapid direct diagnosis of deletions carriers of Duchenne and Becker muscular dystrophies

Ariberto Fassati, Silvana Tedeschi, Andreina Bordoni, Paolo Amboni, Cristina Curcio, Nereo Bresolin, Guglielmo Scarlato

Research output: Contribution to journal › Article

Abstract

13 families and 34 women at risk of being carriers of Duchenne and Becker muscular dystrophies were analysed blind by restriction fragment length polymorphisms (RFLPs) and a new, non-radioactive direct test based on competitive polymerase-chain reaction (PCR) amplification. All obligate carriers were correctly diagnosed by RFLPs and competitive PCR, and 7 women with a 99% risk of being carriers were also diagnosed carriers by competitive PCR. There were no false positives or false negatives. Only 1 PCR result was noninformative. Our test allows rapid, precise, and direct carrier diagnosis of women whose relatives have a known deletion of the dystrophin gene.

Original languageEnglish
Pages (from-to)302-303
Number of pages2
JournalLancet
Volume344
Issue number8918
DOIs
Publication statusPublished - 1994

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Duchenne Muscular Dystrophy
Polymerase Chain Reaction
Restriction Fragment Length Polymorphisms
Dystrophin
Gene Deletion

ASJC Scopus subject areas

  • Medicine(all)

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Rapid direct diagnosis of deletions carriers of Duchenne and Becker muscular dystrophies. / Fassati, Ariberto; Tedeschi, Silvana; Bordoni, Andreina; Amboni, Paolo; Curcio, Cristina; Bresolin, Nereo; Scarlato, Guglielmo.

In: Lancet, Vol. 344, No. 8918, 1994, p. 302-303.

Research output: Contribution to journal › Article

Fassati, A, Tedeschi, S, Bordoni, A, Amboni, P, Curcio, C, Bresolin, N & Scarlato, G 1994, 'Rapid direct diagnosis of deletions carriers of Duchenne and Becker muscular dystrophies', Lancet, vol. 344, no. 8918, pp. 302-303. https://doi.org/10.1016/S0140-6736(94)91340-4
Fassati A, Tedeschi S, Bordoni A, Amboni P, Curcio C, Bresolin N et al. Rapid direct diagnosis of deletions carriers of Duchenne and Becker muscular dystrophies. Lancet. 1994;344(8918):302-303. https://doi.org/10.1016/S0140-6736(94)91340-4
Fassati, Ariberto ; Tedeschi, Silvana ; Bordoni, Andreina ; Amboni, Paolo ; Curcio, Cristina ; Bresolin, Nereo ; Scarlato, Guglielmo. / Rapid direct diagnosis of deletions carriers of Duchenne and Becker muscular dystrophies. In: Lancet. 1994 ; Vol. 344, No. 8918. pp. 302-303.
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