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

作者：Krenkova Petra; Piskackova Tereza; Holubova Andrea; Balascakova Miroslava; Krulisova Veronika; Camajova Jana; Turnovec Marek; Libik Malgorzata; Norambuena Patricia; Stambergova Alexandra; Dvorakova Lenka; Skalicka Veronika; Bartosova Jana; Kucerova Tereza; Fila Libor; Zemkova Dana; Vavrova Vera; Koudova Monika; Macek Milan Sr; Krebsova Alice; Macek Milan Jr

来源：Journal of Cystic Fibrosis, 2013, 12(5): 532-537.

DOI：10.1016/j.jcf.2012.12.002

• Cystic fibrosis
• Czech Republic
• De novo CFTR mutation
• Central Europe
• Newborn screening

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. %26lt;br%26gt;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. %26lt;br%26gt;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. %26lt;br%26gt;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 %26quot;Bohemian diaspora%26quot;.

• 出版日期2013-9