caa a22 4500 475786106 CHVBK 20180406123658.0 cr unu---uuuuu 170329e20000101xx s 000 0 eng 10.1007/PL00013814 doi (NATIONALLICENCE)springer-10.1007/PL00013814 Buccal cell DNA analysis in premature and term neonates: screening for mutations of the complete coding region for the cystic fibrosis transmembrane conductance regulator [Elektronische Daten] [L. -C. Bennett, R. Kraemer, S. Liechti-Gallati] Traditionally, cystic fibrosis (CF) is diagnosed either by measuring sweat electrolyte levels or by screening for mutations using genomic DNA isolated from leucocytes. The aim of this work was to develop a modified fast and non-invasive tool for the collection of cell samples and the genetic analysis of the entire coding region for the cystic fibrosis transmembrane conductance regulator (CFTR) in newborns, especially premature infants. Cell samples were taken by scraping the buccal mucus with tiny dental brushes, followed by DNA isolation and mutation analysis using SSCP-heteroduplex (single-strand conformation polymorphism) screening and sequencing. We have demonstrated that buccal cell DNA collected from premature and term newborns yields sufficient DNA (at least 60 ng) to perform a mutation screening of the complete CFTR coding region, independently of the patients' weight (mean 2200 g) or gestational age (mean 35 weeks). The high stability of the samples at room temperature admits the possibility of dry shipment of samples collected elsewhere to the diagnostic laboratory. Conclusion This fast, non-invasive sampling and DNA isolation method allows for early diagnosis of CF, initiation of therapy and minimisation of parental uncertainty and offers a technique for mutation analysis in any other monogenic disorder. Springer-Verlag Berlin Heidelberg, 2000 Key words Cystic fibrosis nationallicence Mutation screening nationallicence Newborns nationallicence Bennett L. -C Human Molecular Genetics G2/811, Department of Clinical Research, University Children's Hospital, Inselspital, CH-3010 Bern, Switzerland e-mail: lea@bennett.ch Tel.: +41-031-6328724, Fax: +41-031-6329484, CH aut Kraemer R. Department of Paediatrics, University of Bern, Inselspital, CH-3010 Bern, Switzerland, CH aut Liechti-Gallati S. Human Molecular Genetics G2/811, Department of Clinical Research, University Children's Hospital, Inselspital, CH-3010 Bern, Switzerland e-mail: lea@bennett.ch Tel.: +41-031-6328724, Fax: +41-031-6329484, CH aut https://doi.org/10.1007/PL00013814 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/PL00013814 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Bennett L. -C Human Molecular Genetics G2/811, Department of Clinical Research, University Children's Hospital, Inselspital, CH-3010 Bern, Switzerland e-mail: lea@bennett.ch Tel.: +41-031-6328724, Fax: +41-031-6329484, CH aut NATIONALLICENCE 700 1- Kraemer R. Department of Paediatrics, University of Bern, Inselspital, CH-3010 Bern, Switzerland, CH aut NATIONALLICENCE 700 1- Liechti-Gallati S. Human Molecular Genetics G2/811, Department of Clinical Research, University Children's Hospital, Inselspital, CH-3010 Bern, Switzerland e-mail: lea@bennett.ch Tel.: +41-031-6328724, Fax: +41-031-6329484, CH aut Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer