Novel dystrophin mutations revealed by analysis of dystrophin
mRNA: alternative splicing suppresses the phenotypic effect of
a nonsense mutation

J 2001

Novel dystrophin mutations revealed by analysis of dystrophin mRNA: alternative splicing suppresses the phenotypic effect of a nonsense mutation

FAJKUSOVÁ, Lenka, Zdeněk LUKÁŠ, Miroslava TVRDÍKOVÁ, Viera KUHROVÁ, Jiří HÁJEK et. al.

Základní údaje

Originální název

Novel dystrophin mutations revealed by analysis of dystrophin mRNA: alternative splicing suppresses the phenotypic effect of a nonsense mutation

Autoři

FAJKUSOVÁ, Lenka (203 Česká republika), Zdeněk LUKÁŠ (203 Česká republika), Miroslava TVRDÍKOVÁ, Viera KUHROVÁ, Jiří HÁJEK a Jiří FAJKUS (203 Česká republika, garant)

Vydání

Neuromuscular Disordes, Amsterdam, Elsevier Science, 2001, 0960-8966

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

Genetika a molekulární biologie

Stát vydavatele

Nizozemské království

Utajení

není předmětem státního či obchodního tajemství

Impakt faktor

Impact factor: 2.547

Kód RIV

RIV/00216224:14310/01:00004211

Organizační jednotka

Přírodovědecká fakulta

Klíčová slova anglicky

dystrophin mRNA;DMD;BMD;mutations

Štítky

BMD, DMD, dystrophin mRNA, mutations

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 24. 6. 2008 15:49, prof. RNDr. Jiří Fajkus, CSc.

Anotace

V originále

The complete dystrophin mRNA sequence has been analyzed in 20 Duchenne muscular dystrophy and Becker muscular dystrophy patients. In 13 cases, deletions in mRNA were detected using reverse transcription-polymerase chain reaction and in another seven cases, point mutations were found using the protein truncation test. Sixteen patients diagnosed with Duchenne muscular dystrophy showed the presence of deletions or of nonsense point mutations. From four patients with the Becker muscular dystrophy phenotype, three cases were associated with deletions conserving the translational frame and one was associated with a nonsense mutation E1110X. In the case of the E1110X mutation, an alternative splicing of dystrophin mRNA (3485-3640del) was detected in this patient which included the E1110X mutation site (nucleotide 3536) and did not change the translation reading frame. Individual nonsense point mutations were characterized by sequence analysis, which showed five novel mutations with respect to those reported in the Cardiff Human Gene Mutation Database

Návaznosti

MSM 143100008, záměr

Název: Genomy a jejich funkce

Investor: Ministerstvo školství, mládeže a tělovýchovy ČR, Genomy a jejich funkce

Citovat

FAJKUSOVÁ, Lenka, Zdeněk LUKÁŠ, Miroslava TVRDÍKOVÁ, Viera KUHROVÁ, Jiří HÁJEK a Jiří FAJKUS. Novel dystrophin mutations revealed by analysis of dystrophin mRNA: alternative splicing suppresses the phenotypic effect of a nonsense mutation. Neuromuscular Disordes. Amsterdam: Elsevier Science, 2001, roč. 11, č. 2, s. 133-138. ISSN 0960-8966.

@article{362452,
   author = {Fajkusová, Lenka and Lukáš, Zdeněk and Tvrdíková, Miroslava and Kuhrová, Viera and Hájek, Jiří and Fajkus, Jiří},
   article_location = {Amsterdam},
   article_number = {2},
   keywords = {dystrophin mRNA;DMD;BMD;mutations},
   language = {eng},
   issn = {0960-8966},
   journal = {Neuromuscular Disordes},
   title = {Novel dystrophin mutations revealed by analysis of dystrophin mRNA: alternative splicing suppresses the phenotypic effect of a nonsense mutation},
   volume = {roč. 11},
   year = {2001}
}

TY  - JOUR
ID  - 362452
AU  - Fajkusová, Lenka - Lukáš, Zdeněk - Tvrdíková, Miroslava - Kuhrová, Viera - Hájek, Jiří - Fajkus, Jiří
PY  - 2001
TI  - Novel dystrophin mutations revealed by analysis of dystrophin mRNA: alternative splicing suppresses the phenotypic effect of a nonsense mutation
JF  - Neuromuscular Disordes
VL  - roč. 11
IS  - 2
SP  - 133
EP  - 133
PB  - Elsevier Science
SN  - 09608966
KW  - dystrophin mRNA;DMD;BMD;mutations
N2  - The complete dystrophin mRNA sequence has been analyzed in 20 Duchenne muscular dystrophy and Becker muscular dystrophy patients. In 13 cases, deletions in mRNA were detected using reverse transcription-polymerase chain reaction and in another seven cases, point mutations were found using the protein truncation test. Sixteen patients diagnosed with Duchenne muscular dystrophy showed the presence of deletions or of nonsense point mutations. From four patients with the Becker muscular dystrophy phenotype, three cases were associated with deletions conserving the translational frame and one was associated with a nonsense mutation E1110X. In the case of the E1110X mutation, an alternative splicing of dystrophin mRNA (3485-3640del) was detected in this patient which included the E1110X mutation site (nucleotide 3536) and did not change the translation reading frame. Individual nonsense point mutations were characterized by sequence analysis, which showed five novel mutations with respect to those reported in the Cardiff Human Gene Mutation Database
ER  -

FAJKUSOVÁ, Lenka, Zdeněk LUKÁŠ, Miroslava TVRDÍKOVÁ, Viera KUHROVÁ, Jiří HÁJEK a Jiří FAJKUS. Novel dystrophin mutations revealed by analysis of dystrophin mRNA: alternative splicing suppresses the phenotypic effect of a nonsense mutation. \textit{Neuromuscular Disordes}. Amsterdam: Elsevier Science, 2001, roč. 11, č.~2, s.~133-138. ISSN~0960-8966.

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