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001-es BibID:BIBFORM065309
Első szerző:Pikó Henriett (molekuláris biológus)
Cím:Muscular dystrophies : diagnostic approaches in Hungary / Pikó H., Vancsó V., Nagy B., Balog J., Nagymihály M., Herczegfalvi A., Tímár L., Bán Z., Karcagi V.
Dátum:2008
ISSN:0231-424X 1588-2683
Megjegyzések:Muscular dystrophies are a genetically heterogeneous group of degenerative muscle disorders. This article focuses on two severe forms of muscular dystrophies and provides genetic data for a large cohort of Hungarian patients diagnosed within the last few years by the authors. The Duchenne/Becker muscular dystrophy (DMD/BMD) is caused by mutations in the dystrophin gene, which is located on chromosome Xp21. The genetic analysis of dystrophin is usually performed by multiplex polymerase chain reaction (PCR), which detects approximately 95% of all deletions but does not distinguish between one and two copies of the exons investigated. The present work, therefore, concentrates on the improvement of the diagnostic panel for the analysis of DMD/BMD in Hungary. Radioactively labelled cDNA probes, encompassing the whole dystrophin gene detect all the deletions and the analysis is quantitative. In addition, the new multiple ligation-dependent probe amplification (MLPA) technique was recently introduced that enabled more reliable and faster quantitative detection of the entire dystrophin gene. The genomic basis of facioscapulohumeral muscular dystrophy (FSHD) is associated with contraction of the D4Z4 repeat region in the subtelomere of chromosome 4q. In case of FSHD, molecular genetic criteria still have to be improved because of the complexity of the disorder.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény hazai lapban
muscular
dystrophies
diagnostic
Megjelenés:Acta Physiologica Hungarica. - 95 : 4 (2008), p. 405-418. -
További szerzők:Vancsó Viktor Nagy Bálint (1956-) (molekuláris genetikus) Balog Judit Nagymihály Mariann Herczegfalvi Ágnes Tímár László Bán Zoltán (nőgyógyász) Karcagi Veronika (molekuláris biológus)
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