Prenatal diagnosis of duchenne/becker muscular dystrophy by short tandem repeat segregation analysis in argentine families

✍ Scribed by Florencia Giliberto; Verónica Ferreiro; Francisco Massot; Marcela Ferrer; Liliana Francipane; Irene Szijan

• Publisher: John Wiley and Sons
• Year: 2011
• Tongue: English
• Weight: 241 KB
• Volume: 43
• Category: Article
• ISSN: 0148-639X
• DOI: 10.1002/mus.21904

✦ Synopsis

Introduction:

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.