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

Overview

Journal Balkan J Med Genet

Publisher Sciendo

Specialty Genetics

Date 2022 Oct 17

PMID 36249513

Authors

S Tanriverdi

M Polat

H Onay

Affiliations

Soon will be listed here.

Abstract

Cystic fibrosis (CF) is an autosomal recessive disease. The genetic transition occurs with CF transmembrane conductance regulator () gene mutation. We aimed to determine the frequency of CF mutations and also new mutations in the 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 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 gene analysis was normal in 16 neonates in the patient group, whereas in others: A46D (c.137C>A) ( = 1), D1312G (c.3935A>G) ( = 1), R117H (c.350G>A) ( = 1), S1426P (c.4276T>C) ( = 1) heterozygotes were detected; gene analysis was normal at 14 neonates in the control group, whereas in others: E1228G (c.3683A>G) ( = 1), E217G (c.650A>G) ( = 1), E632TfsX9 (c1894_1895delAG) ( = 1), I807M (c.2421 A>G) ( = 2), S573F (c.1718C>T) ( = 1) heterozygotes were detected. There was no significant difference in the patient and control groups' gene analysis ( = 0.340). This study demonstrates the importance of gene analysis in asymptomatic newborn infants for follow-up and early diagnosis of -related disorders. In this study, a c.1894_1895delAG (E632TfsX9) heterozygous mutation detected in the gene in an asymptomatic newborn infant, was first encountered in the literature.

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