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

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dc.contributor.authorTanriverdi S.
dc.contributor.authorPolat M.
dc.contributor.authorOnay H.
dc.date.accessioned2024-07-22T08:05:23Z
dc.date.available2024-07-22T08:05:23Z
dc.date.issued2021
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. © 2021 S Tanriverdi et al., published by Sciendo.
dc.identifier.DOI-ID10.2478/bjmg-2021-0023
dc.identifier.issn13110160
dc.identifier.urihttp://akademikarsiv.cbu.edu.tr:4000/handle/123456789/13118
dc.language.isoEnglish
dc.publisherSciendo
dc.rightsAll Open Access; Gold Open Access; Green Open Access
dc.subjectbicarbonate
dc.subjectC reactive protein
dc.subjectcystic fibrosis transmembrane conductance regulator
dc.subjectlung surfactant
dc.subjectsteroid
dc.subjectApgar score
dc.subjectArticle
dc.subjectartificial ventilation
dc.subjectasymptomatic disease
dc.subjectbicarbonate blood level
dc.subjectblood carbon dioxide tension
dc.subjectbrain hemorrhage
dc.subjectcapillary electrophoresis
dc.subjectclinical article
dc.subjectcontrolled study
dc.subjectcoughing
dc.subjectcrackle
dc.subjectcystic fibrosis
dc.subjectdehydration
dc.subjectdemographics
dc.subjectDNA isolation
dc.subjectearly diagnosis
dc.subjectexon
dc.subjectfemale
dc.subjectfollow up
dc.subjectgene amplification
dc.subjectgene frequency
dc.subjectgene mutation
dc.subjectgenetic analysis
dc.subjectgestational age
dc.subjectground glass opacity
dc.subjectheterozygosity
dc.subjecthospitalized infant
dc.subjecthuman
dc.subjecthyperbilirubinemia
dc.subjecthypernatremic dehydration
dc.subjectintrauterine growth retardation
dc.subjectlaboratory test
dc.subjectlength of stay
dc.subjectlung auscultation
dc.subjectlung dysplasia
dc.subjectlung infiltrate
dc.subjectmale
dc.subjectmaternal age
dc.subjectmetabolic acidosis
dc.subjectmuscle hypotonia
dc.subjectmutation rate
dc.subjectneonatal intensive care unit
dc.subjectneonatal pneumonia
dc.subjectneonatal respiratory distress syndrome
dc.subjectnewborn
dc.subjectnewborn apnea
dc.subjectnewborn sepsis
dc.subjectoxygen consumption
dc.subjectoxygen therapy
dc.subjectpatent ductus arteriosus
dc.subjectplatelet count
dc.subjectpneumonia
dc.subjectpolymerase chain reaction
dc.subjectprematurity
dc.subjectpulmonary hypertension
dc.subjectrestriction fragment length polymorphism
dc.subjectSanger sequencing
dc.subjectsequence analysis
dc.subjecttachycardia
dc.subjecttachypnea
dc.subjectthrombocytopenia
dc.subjectwheezing
dc.titleDetermination of Cystic Fibrosis Mutation Frequency in Preterm and Term Neonates with Respiratory Tract Problems
dc.typeArticle

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