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Investigation of the serum glucocorticoid kinase 1 gene in patients with transient tachypnea of the newborn

Authors: Osman, Oztekin; Mahmut, Akyol; Salih, Kalay; Gonul, Tezel; Mustafa, Akcakus; Nihal, Oygur;

Investigation of the serum glucocorticoid kinase 1 gene in patients with transient tachypnea of the newborn

Abstract

The aim of this study was to investigate whether there is a role of the serum glucocorticoid kinase (SGK) 1 gene, which has an effect on the control of the epithelial sodium channels.This study included patients who were diagnosed with transient tachypnea of the newborn (TTN) with more than 37 weeks of gestation. As the control group, healthy newborns of the same gestational age were included. From each group, within the first 5 d of their lives, 2 cc of whole blood was taken in EDTA tubes, and stored at -80 °C. The DNA extraction was performed.There were 32 patients in the TTN, and also 32 patients in the control group. The heterozygous allele rs1057293 (3/28) and rs1743966 (8/28) were located in the encoder region of the SGK 1 gene. In addition, in encoding region of the SGK 1 gene, the Arg97Ile (1/28), which causes the amino acid changes, had a genotype frequency of 0.0357, and a mutation was identified in Arg97Ile.We have defined polymorphisms rs1057293 and rs1743966 in the SGK 1 gene, and the Arg97Ile mutation, for the first time in patients with TTN. This pilot study gave us some clues about a genetic basis of TTN phenotype, next to the lack of the pulmonary maturation.

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Keywords

Male, Genotype, DNA Mutational Analysis, Transient Tachypnea of the Newborn, Infant, Newborn, Mutation, Missense, Gestational Age, Pilot Projects, Protein Serine-Threonine Kinases, Polymorphism, Single Nucleotide, Immediate-Early Proteins, Gene Frequency, Case-Control Studies, Birth Weight, Humans, Female, Genetic Predisposition to Disease

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Powered by OpenAIRE graph
citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
3
Average
Average
Average