-
Je něco špatně v tomto záznamu ?
Point mutations in Czech DMD/BMD patients and their phenotypic outcome
J. Sedláčková, P. Vondráček, M. Hermanová, J. Zámečník, Z. Hrubá, J. Haberlová, J. Kraus, T. Maříková, P. Hedvičáková, S. Vohanka, L. Fajkusová
Jazyk angličtina Země Velká Británie
Typ dokumentu práce podpořená grantem
- MeSH
- bodová mutace MeSH
- Duchennova muskulární dystrofie genetika MeSH
- dystrofin genetika metabolismus MeSH
- exony MeSH
- fenotyp MeSH
- lidé MeSH
- messenger RNA metabolismus MeSH
- molekulární sekvence - údaje MeSH
- mutační analýza DNA metody MeSH
- sekvence nukleotidů MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- práce podpořená grantem MeSH
- Geografické názvy
- Česká republika MeSH
Duchenne and Becker muscular dystrophies (DMD/BMD) are associated with mutations in the DMD gene. We determined the mutation status of 47 patients with dystrophinopathy without deletion or duplication in the DMD gene by screening performed by reverse transcription-PCR, protein truncation test, and DNA sequencing. We describe three patients with a mutation creating a premature termination codon (p.E55X, p.E1110X, and p.S3497PfsX2) but with a mild phenotype, which present three different ways of rescuing the DMD phenotype. In one patient we detected the insertion of a repetitive sequence AluYa5 in intron 56, which led to skipping of exon 57. Further, using quantitative analysis of DMD mRNA carrying various mutated alleles, we examine levels of mRNA degradation due to nonsense mediated mRNA decay. The quantity of dystrophin mRNA is different depending on the presence of a mutation leading to a premature termination codon, and position of the analysed mRNA region with respect to its 5' end or 3' end. Average relative amounts of DMD mRNAs carrying a premature termination codon is 48% and 17%, when using primers amplifying the 5' and 3' cDNA regions, respectively.
- 000
- 02892naa a2200493 a 4500
- 001
- bmc12009115
- 003
- CZ-PrNML
- 005
- 20130726114540.0
- 008
- 120319s2009 xxk eng||
- 009
- AR
- 040 __
- $d ABA008 $a ABA008 $b cze
- 041 0_
- $a eng
- 044 __
- $a xxk
- 100 1_
- $a Sedláčková, Jana $7 xx0134374 $u Centre of Molecular Biology and Gene Therapy, University Hospital Brno and Masaryk University, Brno
- 245 10
- $a Point mutations in Czech DMD/BMD patients and their phenotypic outcome $c J. Sedláčková, P. Vondráček, M. Hermanová, J. Zámečník, Z. Hrubá, J. Haberlová, J. Kraus, T. Maříková, P. Hedvičáková, S. Vohanka, L. Fajkusová
- 520 9_
- $a Duchenne and Becker muscular dystrophies (DMD/BMD) are associated with mutations in the DMD gene. We determined the mutation status of 47 patients with dystrophinopathy without deletion or duplication in the DMD gene by screening performed by reverse transcription-PCR, protein truncation test, and DNA sequencing. We describe three patients with a mutation creating a premature termination codon (p.E55X, p.E1110X, and p.S3497PfsX2) but with a mild phenotype, which present three different ways of rescuing the DMD phenotype. In one patient we detected the insertion of a repetitive sequence AluYa5 in intron 56, which led to skipping of exon 57. Further, using quantitative analysis of DMD mRNA carrying various mutated alleles, we examine levels of mRNA degradation due to nonsense mediated mRNA decay. The quantity of dystrophin mRNA is different depending on the presence of a mutation leading to a premature termination codon, and position of the analysed mRNA region with respect to its 5' end or 3' end. Average relative amounts of DMD mRNAs carrying a premature termination codon is 48% and 17%, when using primers amplifying the 5' and 3' cDNA regions, respectively.
- 590 __
- $a bohemika - dle Pubmed
- 650 02
- $a sekvence nukleotidů $7 D001483
- 650 02
- $a mutační analýza DNA $x metody $7 D004252
- 650 02
- $a dystrofin $x genetika $x metabolismus $7 D016189
- 650 02
- $a exony $7 D005091
- 650 02
- $a ženské pohlaví $7 D005260
- 650 02
- $a lidé $7 D006801
- 650 02
- $a mužské pohlaví $7 D008297
- 650 02
- $a molekulární sekvence - údaje $7 D008969
- 650 02
- $a Duchennova muskulární dystrofie $x genetika $7 D020388
- 650 02
- $a fenotyp $7 D010641
- 650 02
- $a bodová mutace $7 D017354
- 650 02
- $a messenger RNA $x metabolismus $7 D012333
- 651 _2
- $a Česká republika $7 D018153
- 655 _2
- $a práce podpořená grantem $7 D013485
- 700 1_
- $a Vondráček P.
- 700 1_
- $a Hermanová, Markéta $7 xx0073982
- 700 1_
- $a Zámečník, Josef
- 700 1#
- $a Hrubá, Zuzana. $7 xx0190591
- 700 1_
- $a Haberlová, Jana $7 xx0077362
- 700 1_
- $a Kraus, Josef, $d 1951- $7 mzk2004261109
- 700 1_
- $a Maříková, Taťána, $d 1956- $7 mzk2004248639
- 700 1_
- $a Hedvičáková, Petra $7 xx0065451
- 700 1_
- $a Voháňka, Stanislav $7 xx0060520
- 700 1_
- $a Fajkusová, Lenka, $d 1963- $7 xx0062747
- 773 0_
- $t Neuromuscular Disorders $p Neuromuscul Disord $g Roč. 19, č. 11 (2009), s. 749-753 $x def $w MED00003492
- 773 0_
- $p Neuromuscul Disord $g 19(11):749-53, 2009 Nov
- 910 __
- $a ABA008 $b x $y 4
- 990 __
- $a 20120319150907 $b ABA008
- 991 __
- $a 20130726115032 $b ABA008
- 999 __
- $a ok $b bmc $g 902339 $s 766021
- BAS __
- $a 3
- BMC __
- $a 2009 $b 19 $c 11 $d 749-753 $i def $m Neuromuscular disorders $x MED00003492
- LZP __
- $a 2012-1Q10/