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
page: 25
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Abstract
Cystic 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 followup
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.
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