Title
Detection of mutations causing duchenne and becker muscular dystrophies: Multiplex polymerase chain reaction vs. multiplex ligation dependent probe amplification
Other title
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
Date Issued
01 January 2019
Access level
open access
Resource Type
journal article
Author(s)
University of Strasbourg, Strasbourg Medical School
Publisher(s)
Instituto Nacional de Salud
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.
Start page
475
End page
480
Volume
36
Issue
3
Language
Spanish
OCDE Knowledge area
Genética humana
Subjects
Scopus EID
2-s2.0-85075246203
PubMed ID
Source
Revista Peruana de Medicina Experimental y Salud Publica
ISSN of the container
17264634
Sponsor(s)
El presente artículo forma parte del proyecto de investigación, «Diagnóstico genético molecular en pacientes con Distrofia Muscular de Duchenne (DMD) y Becker (BMD) en Perú», financiado por la Facultad de Medicina Humana de la Universidad de San Martín de Porres.
El objetivo del presente estudio fue implementar la técnica MLPA para el diagnóstico de DMD/DMB y demostrar su ventaja sobre la PCR-multiplex, comúnmente utilizada en algunos centros hospitalarios del Perú.
Sources of information:
Directorio de Producción Científica
Scopus