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 journalArticlepeer-review

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

ASJC Scopus subject areas

  • Medicine(all)

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