Detecting exon deletions and duplications of the DMD gene using Multiplex Ligation-dependent Probe Amplification (MLPA).
OBJECTIVE
To evaluate the efficacy of Multiplex Ligation-dependent Probe Amplification (MLPA) technique in comparison with the traditional multiplex PCR assay in detection of exon deletions and duplications of the DMD gene.


METHODS
The sensitivity and accuracy of MLPA were assessed and compared with the multiplex PCR in a total of 63 subjects including 43 subjects with Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) and 20 female carriers.


RESULTS
MLPA was able to detect all the known deletions and duplications; it detected four additional mutations that had been missed by multiplex PCR. In addition, the extent of the deletions and duplications could be more accurately defined which in turn facilitated a genotype-phenotype correlation.


CONCLUSIONS
MLPA is superior to multiplex PCR. It should be the method of choice for the detection of exon deletions and duplications of the DMD gene in patients with DMD or BMD, as well as in female carriers.
Lai
Kent K S
KK
Clinical Genetic Service, Department of Health, Hong Kong SAR, 3/F, Cheung Sha Wan Jockey Club Clinic, Kwong Lee Road, Shumshipo, Kowloon, Hong Kong. kentlaicgs@yahoo.com.hk
Lo
Ivan F M
IF
Tong
Tony M F
TM
Cheng
Lydia Y L
LY
Lam
Stephen T S
ST
D016189:Dystrophin / Q000235:genetics*; D005091:Exons; D005260:Female; D005784:Gene Amplification; D017353:Gene Deletion; D020440:Gene Duplication; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction / Q000379:methods
C484258:DMD protein, human; D016189:Dystrophin