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Prenatal diagnosis of duchenne/becker muscular dystrophy by short tandem repeat segregation analysis in argentine families
Author(s) -
Giliberto Florencia,
Ferreiro Verónica,
Massot Francisco,
Ferrer Marcela,
Francipane Liliana,
Szijan Irene
Publication year - 2011
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.21904
Subject(s) - duchenne muscular dystrophy , prenatal diagnosis , dystrophin , multiplex polymerase chain reaction , muscular dystrophy , genetics , mutation , genetic counseling , polymerase chain reaction , genetic analysis , genetic testing , gene , biology , medicine , bioinformatics , pregnancy , fetus
Duchenne/Becker muscular dystrophies (DMD/BMD) are X‐linked recessive diseases caused by mutations in the dystrophin gene. Methods: We used multiplex polymerase chain reaction (PCR) and short tandem repeat (STR) segregation analysis for DMD/BMD‐carrier detection and prenatal diagnosis. Results: Twenty‐four at‐risk pregnancies were evaluated: 17 were excluded from carrying dystrophin gene mutations with 95–100% certainty. Of the remaining cases, 2 were determined to carry a dystrophin gene mutation with 95–100% certainty. Three cases had a 67% probability of carrying the mutation, and 2 others were not informative. The certainty of the test increased to ∽100% in some cases due to the identification of several genetic events: 4 recombinations; 4 de novo mutations; and 8 deletions encompassing some of the STRs evaluated. Discussion: Overall, 19 of 24 (79%) molecular prenatal diagnoses were informative, indicating that multiplex PCR/STR segregation analysis is a reliable method for carrier detection and prenatal diagnosis when other more sophisticated techniques are unavailable. Muscle Nerve, 2011