Detección de mutaciones causantes de distrofia muscular de Duchenne/Becker: reacción en cadena de la polimerasa multiplex vs. amplificación múltiple dependiente de ligación por sondas

Francia DP Huaman-Dianderas; María Luisa Guevara-Fujita; Diana Rojas Málaga; Alejandro Estrada-Cuzcano; Ricardo Fujita

doi:10.17843/rpmesp.2019.363.4085

Authors

Francia DP Huaman-Dianderas Centro de Investigación de Genética y Biología Molecular, Instituto de Investigación, Facultad de Medicina Humana, Universidad de San Martín de Porres. Lima, Perú. http://orcid.org/0000-0002-1104-4725
María Luisa Guevara-Fujita Centro de Investigación de Genética y Biología Molecular, Instituto de Investigación, Facultad de Medicina Humana, Universidad de San Martín de Porres. Lima, Perú.
Diana Rojas Málaga Laboratório de Genética y Biologia Molecular, Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Brasil.
Alejandro Estrada-Cuzcano Medical Genetics Laboratory, INSERM U1112, Institute of Medical Genetics of Alsace, University of Strasbourg, Strasbourg Medical School. Strasbourg, France.
Ricardo Fujita Centro de Investigación de Genética y Biología Molecular, Instituto de Investigación, Facultad de Medicina Humana, Universidad de San Martín de Porres. Lima, Perú.

DOI:

https://doi.org/10.17843/rpmesp.2019.363.4085

Keywords:

Dystrophin, Multiplex polymerase chain reaction, Multiplex ligation-dependent probe amplification, Genetic diagnosis

Abstract

Duchenne and Becker muscular dystrophies are rare diseases that receive limited attention in our field. The objective of this study was to implement the Multiplex Ligation-dependent Probe Amplification technique (MLPA) and to demonstrate that it has advantages over the Multiplex Polymerase Chain Reaction (Multiplex PCR) technique. Samples from 40 individuals with a presumptive diagnosis of Duchenne and Becker muscular dystrophies were analyzed: first by Multiplex PCR and then by MLPA. Fifteen individuals with causal deletions were detected with Multiplex PCR, while the MLPA technique was able to diagnose 21 individuals, four duplications, and 17 deletions. In conclusion, the MLPA technique can detect mutations of the exon deletion and duplication type, yielding a larger number of molecular diagnoses due to alterations in the DMD gene.