Distribution of CFTR mutations in Eastern Hungarians: Relevance to genetic testing and to the introduction of newborn screening for cystic fibrosis
Identifikátory výsledku
Kód výsledku v IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F11%3A7072" target="_blank" >RIV/00064203:_____/11:7072 - isvavai.cz</a>
Nalezeny alternativní kódy
RIV/00216208:11130/11:7072
Výsledek na webu
<a href="http://www.ncbi.nlm.nih.gov/pubmed/21296036" target="_blank" >http://www.ncbi.nlm.nih.gov/pubmed/21296036</a>
DOI - Digital Object Identifier
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Alternativní jazyky
Jazyk výsledku
angličtina
Název v původním jazyce
Distribution of CFTR mutations in Eastern Hungarians: Relevance to genetic testing and to the introduction of newborn screening for cystic fibrosis
Popis výsledku v původním jazyce
Background: The aim of this study was characterization of an updated distribution of CFTR mutations in a representative cohort of 40 CF patients with the classical form of the disease drawn from Eastern Hungary. Due to the homogeneity of the Hungarian population our data are generally applicable to other regions of the country, including the sizeable diaspora. Methods: We utilized the recommended "cascade" CFTR mutation screening approach, initially using a commercial assay, followed by examination of the common "Slavic" deletion CFTRdele2,3(21 kb). Subsequently, the entire CFTR coding region of the CFTR gene was sequenced in patients with yet unidentified mutations. Results: The Elucigene CF29 (TM) v2 assay detected 81.25% of all CF causing mutations.An addition of the CFTRdele2,3(21 kb) increased the mutation detection rate to 86.25%. DNA sequencing enabled us to identify mutations on 79/80 CF alleles. Mutations [CFTRdele2,3(21 kb), p.Gln685ThrfsX4 (2184insA) were found at an unusua
Název v anglickém jazyce
Distribution of CFTR mutations in Eastern Hungarians: Relevance to genetic testing and to the introduction of newborn screening for cystic fibrosis
Popis výsledku anglicky
Background: The aim of this study was characterization of an updated distribution of CFTR mutations in a representative cohort of 40 CF patients with the classical form of the disease drawn from Eastern Hungary. Due to the homogeneity of the Hungarian population our data are generally applicable to other regions of the country, including the sizeable diaspora. Methods: We utilized the recommended "cascade" CFTR mutation screening approach, initially using a commercial assay, followed by examination of the common "Slavic" deletion CFTRdele2,3(21 kb). Subsequently, the entire CFTR coding region of the CFTR gene was sequenced in patients with yet unidentified mutations. Results: The Elucigene CF29 (TM) v2 assay detected 81.25% of all CF causing mutations.An addition of the CFTRdele2,3(21 kb) increased the mutation detection rate to 86.25%. DNA sequencing enabled us to identify mutations on 79/80 CF alleles. Mutations [CFTRdele2,3(21 kb), p.Gln685ThrfsX4 (2184insA) were found at an unusua
Klasifikace
Druh
J<sub>x</sub> - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)
CEP obor
FC - Pneumologie
OECD FORD obor
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Návaznosti výsledku
Projekt
<a href="/cs/project/NS9986" target="_blank" >NS9986: Optimalizace novorozeneckého screeningu cystické fibrózy.</a><br>
Návaznosti
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>Z - Vyzkumny zamer (s odkazem do CEZ)
Ostatní
Rok uplatnění
2011
Kód důvěrnosti údajů
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Údaje specifické pro druh výsledku
Název periodika
Journal of Cystic Fibrosis
ISSN
1569-1993
e-ISSN
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Svazek periodika
10
Číslo periodika v rámci svazku
3
Stát vydavatele periodika
NL - Nizozemsko
Počet stran výsledku
4
Strana od-do
217-220
Kód UT WoS článku
000291959600012
EID výsledku v databázi Scopus
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