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

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00216208:11130/13:10209718

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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

Název v anglickém jazyce

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

Popis výsledku anglicky

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

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

EB - Genetika a molekulární biologie

OECD FORD obor

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Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2013

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Journal of Cystic Fibrosis

ISSN

1569-1993

e-ISSN

—

Svazek periodika

12

Číslo periodika v rámci svazku

5

Stát vydavatele periodika

NL - Nizozemsko

Počet stran výsledku

6

Strana od-do

532-537

Kód UT WoS článku

000324664300018

EID výsledku v databázi Scopus

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