Análisis de deleciones en 15 exones situados dentro y fuera del hot spot mutacional del gen de la distrofina en pacientes con distrofia muscular de Duchenne

Translated title of the contribution: Deletion Analysis of 15 exons located outside and inside a "Hot Spot" in the Duchenne Muscular Dystrophy gene in Duchenne's Muscular dystrophy patients

Dora Janeth Fonseca, Heidi Eliana Mateus, Nora Constanza Contreras, Rossana Sánchez, Tristana Herrera, Claudia Tamar Silva

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

Abstract

Duchenne and Becker Muscular Dystrophies (DMD/DMB) are X-linked recessive diseases characterized by progressive muscle weakness and wasting, loss of motor skills and death after the second decade of life. Deletions are the most prevalent mutations that affect the dystrophin gene, which spans 79 exons. Objective: Identify deletions on the dystrophin gene in 58 patients affected with DMD. Methods: Through multiplex PCR identify deletions on the dystrophin gene in 58 patients with DMD and observe the frequency of this mutation in our population. Results: We found deletions in 1.72% of patients (1 of 58 persons). Deletions were not the principal cause of disease in our population. It is possible that duplications and point mutations caused this illness in our patients. Conclusions: The frequency of deletions in the 15 exons analyzed from the dystrophin gene was low. The predominant types of mutation in our patients' samples were not deletions as has been observed in the literature worldwide, therefore, it is important to determine other types of mutations as are duplications and point mutations.

Translated title of the contributionDeletion Analysis of 15 exons located outside and inside a "Hot Spot" in the Duchenne Muscular Dystrophy gene in Duchenne's Muscular dystrophy patients
Original languageSpanish
Pages (from-to)15-21
Number of pages7
JournalRevista ciencias de la salud
Volume7
Issue number2
StatePublished - 2009

All Science Journal Classification (ASJC) codes

  • Medicine (miscellaneous)
  • Health(social science)

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