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001-es BibID:	BIBFORM065311
Első szerző:	Pikó Henriett (molekuláris biológus)
Cím:	Hordozóságszűrés Duchenne-/Becker-izomdystrophiával érintett családokban / Pikó Henriett, Nagy Bálint, Balog Judit, Bán Zoltán, Herczegfalvi Ágnes, Karcagi Veronika
Dátum:	2007
ISSN:	0030-6002 1788-6120
Megjegyzések:	Duchenne/Becker muscular dystrophy is a severe, recessive, X-linked neuromuscular disease with an incidence of 1/3500 (Duchenne type) and 1/30,000 (Becker type) in newborn boys. The gene responsible for the Duchenne/Becker muscular dystrophy phenotype is located at Xp21 and its 427 kD protein product is called dystrophin. Deletions, point mutations and rarely duplications can occur almost anywhere in the DMD gene, which makes the molecular diagnosis difficult. Multiple polymerase chain reactions detect 95% of deletions in affected males [2, 4], but are not suitable for carrier detection in female relatives. Southern-blot analysis with six different cDNA probes covers the whole 14 kb dystrophin transcript and allows the detection of female carriers by comparing the intensity of the signals corresponding to the different exons. This method is time consuming compared to the newly introduced multiple ligation-dependent probe amplification method. Multiple ligation-dependent probe amplification is a method suitable for relative quantification of several DNA sequences in one reaction. The authors report results on 93 cases where the carrier status was analysed simultaneously by cDNA hybridisation and multiple ligation-dependent probe amplification technique. In 42 cases the carrier state was confirmed and in this carrier population the authors additionally detected two cases with duplication, two cases with one copy of the whole dystrophin gene and three manifest carrier females. On the basis of these results the MLPA technique, which has been newly introduced in Hungary, proved to be a sensitive and quick method for the detection of carrier state in the DMD/BMD disease. Moreover, the exact deletion or duplication border can be detected and as a result, prediction on the phenotype can be given. This will provide the right therapeutic intervention for the affected patients in the future.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok magyar nyelvű folyóiratközlemény hazai lapban hordozó Duchenne Becker izom Dystrophy MLPA
Megjelenés:	Orvosi Hetilap. - 148 : 51 (2007), p. 2403-2409. -
További szerzők:	Nagy Bálint (1956-) (molekuláris genetikus) Balog Judit Bán Zoltán (nőgyógyász) Herczegfalvi Ágnes Karcagi Veronika (molekuláris biológus)
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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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