RRML - Identification of exonic copy number variations in dystrophin gene using MLPA
AMLR

ISSN online: 2284-5623

ISSN-L: 1841-6624

Rejection rate (2016): 55%

Română English


SCImago Journal & Country Rank


Advanced search


Top 10 downloaded articles
- May 2018 -
 
Can laboratory assays for meas... 13
Phenotypic and molecular ident... 10
Romanian Review of Laboratory ... 6
Association of ischemia-modifi... 6
Antibiotic susceptibility and ... 6
Fecal microbiota transplantati... 6
Sanger sequencing of MMR genes... 5
Could fibrinogen and hsCRP be ... 5
xTAG Luminex multiplex assay f... 5
Effects of miR-99a on the migr... 5

Log in

Concept, Design & Programming
Dr. Adrian Man

   
 
Nr. 22(4)/2014 DOI:10.2478/rrlm-2014-0038
XML
TXT

Identification of exonic copy number variations in dystrophin gene using MLPA

Cristina Rusu, Adriana Sireteanu, Lăcrămioara Butnariu, Monica Pânzaru, Elena Braha, Doina Mihăilă, Roxana Popescu


Abstract

Duchenne and Becker muscular dystrophies (DMD/BMD) are X-linked progressive muscle disorders determined by mutations of the dystrophin (DMD) gene. Multiplex Ligation - Dependent Probe Amplification (MLPA) is a simple, inexpensive and reliable test for molecular diagnosis of DMD gene mutations. It identifies exonic copy number variations in the DMD gene, but the test should be completed with sequencing analysis in case of single exon deletions/duplications. The aim of this study was to evaluate the efficiency of MLPA as a DMD mutation screening tool in affected males and carrier females, as well as to appreciate the frequency of different types of mutations and to check the validity of the “reading frame rule”. We have used MLPA for the detection of deletions/duplications in DMD gene in 53 individuals (30 affected males and 23 asymptomatic female relatives) referred for evaluation and genetic counseling due to the clinical suspicion of DMD/BMD. In the affected males (21 DMD and 9 BMD) MLPA had a detection rate of 63.5% (53.5% deletions and 10% duplications). The most frequently deleted exon was exon 45 and the most frequent duplication involved exons 3-5, confirming the presence of the two hotspot mutation regions reported in the literature. Mutations detected in our study have a slightly different location compared to literature data. Reading frame rule was valid in 84% of our cases.

Keywords: Duchenne and Becker muscular dystrophies;dystrophin;MLPA;deletions/duplications

Received: 8.7.2014
Accepted: 28.10.2014
Published: 28.11.2014

 
  PDF Download full text PDF
(433 KB)
     
 
How to cite
Rusu C, Sireteanu A, Butnariu L, Pânzaru M, Braha E, Mihăilă D, et al. Identification of exonic copy number variations in dystrophin gene using MLPA. Rev Romana Med Lab. 2014;22(4):419-26. DOI:10.2478/rrlm-2014-0038