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

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F13%3A10209718" target="_blank" >RIV/00064203:_____/13:10209718 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/13:10209718
Result on the web
<a href="http://dx.doi.org/10.1016/j.jcf.2012.12.002" target="_blank" >http://dx.doi.org/10.1016/j.jcf.2012.12.002</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.jcf.2012.12.002" target="_blank" >10.1016/j.jcf.2012.12.002</a>

Result language
angličtina
Original language name
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
Original language 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-causingmutations 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 mutati
Czech name
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Czech description
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Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
EB - Genetics and molecular biology
OECD FORD branch
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Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year
2013
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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