CYSTIC FIBROSIS MUTATION SPECTRUM IN NORTH MACEDONIA: A STEP TOWARD PERSONALIZED THERAPY
Terzic M1, Jakimovska M1, Fustik S2, Jakovska T3, Sukarova-Stefanovska E1, Plaseska-Karanfilska D1,*
*Corresponding Author: Professor Dijana Plaseska-Karanfilska, MD, PhD, Research Center for Genetic Engineering and Biotechnology “Georgi D.Efremov,” Macedonian Academy of Sciences and Arts, Av. Krste Misirkov 2, 1000 Skopje, Republic of North Macedonia. Tel: +389-23-235-400/264. E-mail: dijana@manu. edu.mk
page: 35

MATERIALS AND METHODS

Materials. A total of 158 patients (ages between newborn and 36 years) with positive (Cl– >60.0 mEqv/L) or borderline(Cl– = 40.0-60.0 mEqv/L) sweat test result and clinical features consistent with a diagnosis of CF: respiratory (repeated episodes of bronchopneumonia, chronic cough and sputum production, wheezing, sinus disease with nasal polyps) and non respiratory, i.e., digestive (meconium ileus, failure to thrive, malnutrition, steatorrhea); dehydration with salt depletion; hepatobiliary disease or recurrent pancreatitis were referred for molecular characterization of CF, mainly from the Department of Pediatrics and the Institute for Respiratory Diseases, Skopje, Republic of North Macedonia. Of the 158 patients, 97 were of Macedonian ethnic background, 59 were of the Albanian ethnic background. Of the remaining two patients, one was of Turkish ethnicity and the other of Bosnian ethnic background. Informed written consent was obtained from all individuals included in the study. The study was approved by the Ethics Committee of the Macedonian Academy of Sciences and Arts, Skopje, Republic of North Macedonia. Methods. DNA was isolated from peripheral blood using the standard phenol-chloroform extraction method. Initially, all patients were screened for a panel of CFTR mutations with SNaPshot analysis as published by Noveski et al. [8] (mutations screened: F508del, G542X, N1303K, 621+1G>T, G551D, R553X, R1162X, W1282X, R117H, 2184insA and 1717-1G>A). The analysis of the amplified fragments was performed on the ABI PRISM® 3130 Genetic Analyzer (Thermo Fisher Scientific, Waltham, MA, USA). For the patients whose genotypes were not determined with the initial screening, several additional methods were applied. These include: INNO LiPA CFTR 19 and INNO LiPA CFTR+17 Tn Update detection kit for 36 mutations in the CFTR gene (Fujirebio Diagnostics AB, Göteborg, Sweden); multiplex ligation-dependent probe amplification (MLPA), for detection of deletions/duplications in the CFTR gene (SALSA MLPA KIT P091 CFTR; MRC-Holland, Amsterdam, The Netherlands); next generation sequencing (NGS), with TruSight Inherited gene panel performed on MiSeq Illumina Personal Sequencer and data analyses on the Illumina Variant Studio (Illumina Inc., San Diego, CA, USA).



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