title: Dystrophin gene analysis in Hungarian Duchenne/Becker muscular dystrophy families - detection of carrier status in symptomatic and asymptomatic female relatives.
abstract: 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.
authors.affiliation: National Institute of Environmental Health, Department of Molecular Genetics, Gyali út 2-6, H-1097 Budapest, Hungary.
authors.forename: Henriett
authors.initials: H
authors.lastname: Pikó
authors.forename: Viktor
authors.initials: V
authors.lastname: Vancsó
authors.forename: Bálint
authors.initials: B
authors.lastname: Nagy
authors.forename: Zoltán
authors.initials: Z
authors.lastname: Bán
authors.forename: Agnes
authors.initials: A
authors.lastname: Herczegfalvi
authors.forename: Veronika
authors.initials: V
authors.lastname: Karcagi
mesh_terms: D000328:Adult; D002648:Child; D004252:DNA Mutational Analysis; D016189:Dystrophin / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006580:Genetic Carrier Screening / Q000379:methods*; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D006814:Hungary / Q000208:ethnology; D015994:Incidence; D040582:Inheritance Patterns / Q000235:genetics*; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000208:ethnology / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D016133:Polymerase Chain Reaction / Q000379:methods; D015995:Prevalence; D012737:Sex Factors
chemical_list: D016189:Dystrophin; D005819:Genetic Markers