Kivonat:
A comprehensive study of the Hungarian Duchenne/Becker muscular
dystrophy (DMD/BMD) families is presented. Deletions in the hot spots
regions were identified by multiplex PCR, whereas rare Mutations were
detected by Southern blot and multiplex ligation-dependent probe
amplification (MLPA) techniques. DMD/BMD disease was confirmed and
exact deletion borders were determined in 19 out of 135 affected males
using multiplex PCR. Additional exons involved as well as rare exon
deletions were identified by MLPA in 71 male patients, whereas
duplications were observed in seven patients. In two DMD patients, the
entire dystrophin gene and adjacent genes were deleted. Out of the 95
female relatives, 41 proved to be carriers, including three manifesting
carrier females. Using MLPA method, a large portion of the Hungarian
DMD/BMD patients and their female relatives were exactly genotyped. For
the first time, the incidence and prevalence of asymptomatic and
symptomatic female carriers in Hungary was estimated. (C) 2008 Elsevier
B.V. All rights reserved.