Balkan Journal of Medical Genetics

DETERMINATION OF CYSTIC FIBROSIS MUTATION FREQUENCY IN PRETERM AND TERM NEONATES WITH RESPIRATORY TRACT PROBLEMS
Tanriverdi S1, Polat M, Onay H
*Corresponding Author: Sema Tanriverdi, M.D., Assistant Professor, Department of Pediatrics, Division of Neonatology, Manisa Celal Bayar University Medical School, Uncubozkoy, 45030 Yunusemre, Manisa, Turkey. Tel: +90-236-236-0330. Fax: +90-236-233-8040. E-mail: sema.tanriverdi@cbu.edu.tr
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MATERIALS AND METHODS

Patients. Term and preterm newborn babies hospitalized due to respiratory distress in the Neonatal Intensive Care Unit at Manisa Celal Bayar University Hospital, Manisa, Turkey, between May 2017 and January 2018, were included in this study. The control group consisted of term and preterm infants who had no respiratory distress. The study was approved by the Manisa Celal Bayar University Medical School Ethics Review Board. Infants with congenital anatomic respiratory disease, congenital heart disease, perinatal asphyxia, meconium aspiration syndrome, and respiratory distress due to metabolic and hematological causes, were not included in the study. Infants with respiratory distress due to cesarean section (Csection) were also excluded from the study. Genetic Analysis. DNA isolation from blood samples obtained from each infant was performed at the Medical Genetics Laboratory, Ege University Medical Faculty, Izmir, Turkey. DNA amplification was performed using thermal cycler (GeneAmp PCR System 9600; Applied Biosystems, Foster City, CA, USA). A Sanger sequence [capillary electrophoresis (CE)] platform was used for sequence analysis. All exons of the CFTR gene were reproduced and purification procedures were carried out. Related products were run on a CE device. Each sample was analyzed using the sequencing analysis software program (http://technelysium.com.au/wp/chromas/). Using the Chromas program, a comparison was made with the normal sequence at the http://www.ncbi.nlm.gov website, and the detected mutations were identified. Statistical Analyses. Statistical analysis was performed using the Statistical Package for the Social Sciences (SPSS) version 18.0 for Windows program (https:// www.ibm.com/spss/statistics). The t-test, χ2 test, logistic regression, nominal regression and Cohen’s κ coefficient methods were used to evaluate the data. Odds ratio (OR) and 95% confidence interval (95% CI) values were calculated and genotype and allele differences were compared using the χ2 test. As there was no significant difference between the patient group with respiratory distress and the control group without respiratory distress in terms of the genotypes, allele frequency was not analyzed by the Hardy-Weinberg equivalence test. The relationship of genotype and allele groups with clinical characteristics was tested with the Pearson correlation test. A p value of <0.05 was considered to be statistically significant.

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