Genetic diagnosis of Duchenne/Becker muscular dystrophy by MLPA / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To assess the value of multiplex ligation-dependent probe amplification (MLPA) for the genetic and prenatal diagnosis of Duchenne/Becker muscular dystrophy (DMD/BMD).</p><p><b>METHODS</b>Forty seven patients clinically diagnosed or suspected with DMD/BMD were recruited. Deletion or duplication of the 79 exons of the DMD gene were detected by MLPA. PCR and sequencing were used to detect single exon deletion. MLPA was also used for identifying carriers. For cases requesting prenatal diagnosis, short tandem repeat (STR) capillary electrophoresis, linkage analysis and MLPA were applied to determine fetal DMD gene.</p><p><b>RESULTS</b>Among the 47 patients, deletions and duplications encompassing one or more exons were identified in 31 and 7 cases with MLPA, respectively. Seven patients had single exon deletions. However, one of which was actually a point mutation in the probe-conjugated region and was confirmed by PCR and sequencing. Of the 23 mothers with MLPA positive sons, 13 were found to carry either deletions or duplications. Prenatal diagnosis has identified 2 male affected fetuses and 3 female carrier fetuses in the 13 cases examined, which was in conformity with linkage analysis.</p><p><b>CONCLUSION</b>Our data demonstrated that MLPA is a rapid, direct and reliable method for detecting deletions or duplications of the DMD gene. It can also indicate small changes within the sequences detected by the probe. Combing MLPA with PCR, sequencing and linkage analysis could make the genetic diagnosis of DMD/BMD more accurate.</p>