Determination of Cystic Fibrosis Mutation Frequency in Preterm and Term Neonates with Respiratory Tract Problems

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dc.authorscopusid55308605000
dc.authorscopusid57729902400
dc.authorscopusid8929131500
dc.contributor.authorTanriverdi, S.
dc.contributor.authorPolat, M.
dc.contributor.authorOnay, H.
dc.date.accessioned2023-01-12T20:12:18Z
dc.date.available2023-01-12T20:12:18Z
dc.date.issued2021
dc.departmentN/A/Departmenten_US
dc.description.abstractCystic fibrosis (CF) is an autosomal recessive disease. The genetic transition occurs with CF transmembrane conductance regulator (CFTR) gene mutation. We aimed to determine the frequency of CF mutations and also new mutations in the CFTR gene in neonates with respiratory distress. Newborn babies hospitalized due to respiratory distress were included in the patient group. The control group consisted of infants who had no respiratory distress. The CFTR genes of both groups were analyzed using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) methods. A total of 40 patients (20 in the patient group and 20 in the control group) were evaluated. The CFTR gene analysis was normal in 16 neonates in the patient group, whereas in others: A46D (c.137C>A) (n = 1), D1312G (c.3935A>G) (n = 1), R117H (c.350G>A) (n = 1), S1426P (c.4276T>C) (n = 1) heterozygotes were detected; CFTR gene analysis was normal at 14 neonates in the control group, whereas in others: E1228G (c.3683A>G) (n = 1), E217G (c.650A>G) (n = 1), E632TfsX9 (c1894_1895delAG) (n = 1), I807M (c.2421 A>G) (n = 2), S573F (c.1718C>T) (n = 1) heterozygotes were detected. There was no significant difference in the patient and control groups' CFTR gene analysis (p = 0.340). This study demonstrates the importance of CFTR gene analysis in asymptomatic newborn infants for follow-up and early diagnosis of CFTR-related disorders. In this study, a c.1894_1895delAG (E632TfsX9) heterozygous mutation detected in the CFTR gene in an asymptomatic newborn infant, was first encountered in the literature.en_US
dc.description.sponsorshipManisa Celal Bayar University Scientific Research Projects Office [2015-133]en_US
dc.description.sponsorshipThis study was funded by Manisa Celal Bayar University Scientific Research Projects Office [Project #2015-133].en_US
dc.identifier.doi10.2478/bjmg-2021-0023
dc.identifier.endpage31en_US
dc.identifier.issn1311-0160
dc.identifier.issue2en_US
dc.identifier.pmid36249513en_US
dc.identifier.scopus2-s2.0-85131419461en_US
dc.identifier.scopusqualityQ4en_US
dc.identifier.startpage25en_US
dc.identifier.urihttps://doi.org/10.2478/bjmg-2021-0023
dc.identifier.urihttps://hdl.handle.net/11454/78283
dc.identifier.volume24en_US
dc.identifier.wosWOS:000805907100003en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherSciendoen_US
dc.relation.ispartofBalkan Journal of Medical Geneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectCystic fibrosis (CF)en_US
dc.subjectCystric fibrosis trans-membrane conductance regulator (CFTR) geneen_US
dc.subjectMutationen_US
dc.subjectNewbornen_US
dc.subjectTransmembrane Conductance Regulatoren_US
dc.subjectCftr Geneen_US
dc.titleDetermination of Cystic Fibrosis Mutation Frequency in Preterm and Term Neonates with Respiratory Tract Problemsen_US
dc.typeArticleen_US

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