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Statements

Subject Item
n2:RIV%2F00216208%3A11130%2F13%3A10209718%21RIV15-MSM-11130___
rdf:type
skos:Concept n11:Vysledek
rdfs:seeAlso
http://dx.doi.org/10.1016/j.jcf.2012.12.002
dcterms:description
Background: This two decade long study presents a comprehensive overview of the CFTR mutation distribution in a representative cohort of 600 Czech CF patients derived from all regions of the Czech Republic. Methods: We examined the most common CF-causing mutations using the Elucigene CF-EU2v1 (TM) assay, followed by MLPA, mutation scanning and/or sequencing of the entire CFTR coding region and splice site junctions. Results: We identified 99.5% of all mutations (1194/1200 CFTR alleles) in the Czech CF population. Altogether 91 different CFTR mutations, of which 20 were novel, were detected. One case of de novo mutation and a novel polymorphism was revealed. Conclusion: The commercial assay achieved 90.7%, the MLPA added 1.0% and sequencing increased the detection rate by 7.8%. These comprehensive data provide a basis for the improvement of CF DNA diagnostics and/or newborn screening in our country. In addition, they are relevant to related Central European populations with lower mutation detection rates, as well as to the sizeable North American %22Bohemian diaspora%22. Background: This two decade long study presents a comprehensive overview of the CFTR mutation distribution in a representative cohort of 600 Czech CF patients derived from all regions of the Czech Republic. Methods: We examined the most common CF-causing mutations using the Elucigene CF-EU2v1 (TM) assay, followed by MLPA, mutation scanning and/or sequencing of the entire CFTR coding region and splice site junctions. Results: We identified 99.5% of all mutations (1194/1200 CFTR alleles) in the Czech CF population. Altogether 91 different CFTR mutations, of which 20 were novel, were detected. One case of de novo mutation and a novel polymorphism was revealed. Conclusion: The commercial assay achieved 90.7%, the MLPA added 1.0% and sequencing increased the detection rate by 7.8%. These comprehensive data provide a basis for the improvement of CF DNA diagnostics and/or newborn screening in our country. In addition, they are relevant to related Central European populations with lower mutation detection rates, as well as to the sizeable North American %22Bohemian diaspora%22.
dcterms:title
Distribution of CFTR mutations in the Czech population: Positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations Distribution of CFTR mutations in the Czech population: Positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations
skos:prefLabel
Distribution of CFTR mutations in the Czech population: Positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations Distribution of CFTR mutations in the Czech population: Positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations
skos:notation
RIV/00216208:11130/13:10209718!RIV15-MSM-11130___
n3:aktivita
n15:I
n3:aktivity
I
n3:cisloPeriodika
5
n3:dodaniDat
n7:2015
n3:domaciTvurceVysledku
n4:6435556 n4:9856471 n4:1421840 n4:2374218 n4:3879615 Norambuena Baraquet, Patricia Alejandra n4:8176655 n4:7160828 n4:9781595 Čamajová, Jana n4:4610016 n4:9104992 n4:1488058 n4:8442592 n4:7655452 n4:7011288 n4:5147972 n4:8128243 n4:1102036
n3:druhVysledku
n14:J
n3:duvernostUdaju
n12:S
n3:entitaPredkladatele
n10:predkladatel
n3:idSjednocenehoVysledku
69988
n3:idVysledku
RIV/00216208:11130/13:10209718
n3:jazykVysledku
n19:eng
n3:klicovaSlova
Newborn screening; Central Europe; De novo CFTR mutation; Czech Republic; Cystic fibrosis
n3:klicoveSlovo
n6:De%20novo%20CFTR%20mutation n6:Cystic%20fibrosis n6:Central%20Europe n6:Czech%20Republic n6:Newborn%20screening
n3:kodStatuVydavatele
NL - Nizozemsko
n3:kontrolniKodProRIV
[04A43211C75B]
n3:nazevZdroje
Journal of Cystic Fibrosis
n3:obor
n16:EB
n3:pocetDomacichTvurcuVysledku
19
n3:pocetTvurcuVysledku
21
n3:rokUplatneniVysledku
n7:2013
n3:svazekPeriodika
12
n3:tvurceVysledku
Bartošová, Jana Krebsová, Alice Zemková, Daniela Balaščaková, Miroslava Kučerová, Tereza Piskáčková, Tereza Skalická, Veronika Norambuena Baraquet, Patricia Alejandra Fila, Libor Krulišová, Veronika Macek, Milan Vávrová, Věra Čamajová, Jana Dvořáková, Lenka Křenková, Petra Libik Malgorzata, Dorota Štambergová, Alexandra Koudová, Monika Turnovec, Marek Holubová, Andrea
n3:wos
000324664300018
s:issn
1569-1993
s:numberOfPages
6
n17:doi
10.1016/j.jcf.2012.12.002
n18:organizacniJednotka
11130