Detection of deletions within the dystrophin gene in Polish families affected with Duchenne/Becker muscular dystrophy

Abstract

DNA analysis was performed in 190 cases of Duchenne and Becker muscular dystrophies (DMD/BMD), including 150 cases with DMD and 40 cases with BMD, using Southern blotting and PCR multiplex techniques with application of 25 pairs of primers. Deletions in the overall material were found in 109 cases: 81 (54%) in patients with DMD and 28 (70%) in patients with BMD. All the deletions in DMD were out of frame with the exception of two cases, whereas in BMD all the deletions but two were in frame. Junction fragments were detected in 12 cases of DMD. In five cases duplications were found: four in patients with DMD and one in a patient with BMD.

MLPA based detection of mutations in the dystrophin gene of 180 Polish families with Duchenne/Becker muscular dystrophy

“…Both exons, were successfully amplified by standard PCR and sequenced, showing presence of point mutations: c.134delA in exon 3 (p.Q45Rfs*7) and c.5407C>T in exon 38 (p. Q1803*). Location of deletions and duplications, detected in this study, stayed in agreement with data published by other authors [21][22][23][26][27][28]. Deletions clustered within two hot spots, mayor encompassing exons 44-52 (68%) and minor site including exons 3-19 (28%).…”

“…Like in our previous report [28], small deletions, including less than 10 exons, were found to be predominant in this study (84%). We also confirm an observation made by other researchers that majority of duplications are small ones, encompassing less than 10 exons (73%) [10,[13][14][15].…”

The impact of Professor Irena Hausmanowa-Petrusewicz studies on the development of genetics of neuromuscular disorders

“…Autorzy proponują dwuetapową diagnostykę dMd/BMd, w której ocena dystrofiny powinna wyprzedzać poszukiwanie delecji w obrębie genu DMD. jednocześnie przyznają, że taki sposób postępowania może być trudny z uwagi na inwazyjność zabiegu biopsji mięśnia [21].…”