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 language | English |
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Pages (from-to) | 302-303 |
Number of pages | 2 |
Journal | Lancet |
Volume | 344 |
Issue number | 8918 |
DOIs | |
Publication status | Published - 1994 |
ASJC Scopus subject areas
- Medicine(all)