Correlation between SCNN1A gene polymorphism and the NRDS, and screening of its TagSNPs

Abstract

Background: In near term/term infants with NRDS demonstrate poor efficacy of exogenous PS. Their respiratory distress may be different in pathogenesis from preterm infants-RDS. Studies have reported that barrier to lung fluid absorption in the near term/full-term infants plays an important role in the pathogenesis of NRDS. The electrolyte transport of alveolar epithelial cells through by epithelial sodium channel (a-ENaC) is the key step in epithelial lung fluid of transit. Now research shows that genetic polymorphisms between individuals contribute to the number and activity of a-ENaC. Methods: Our research will use the methods of combination by HapMap database and the haplotype, analysis all SNPs of SCNN1A which encoding a-ENaC, and selected the tagging SNPs which are closely related to RDS incidence of near-term/full-term infants. And analysis functional significance of SNPs based on the use of ELISA, qPCR, reporter gene. Study Goal: In order to provide new explanations for the pathogenesis of near term/term infants' RDS from a genetic point of view, the theoretical foundation of molecular genetics for revealling the specific mechanisms of lung fluid absorption that could lead NRDS need to be elucidated, and new markers for early warning in NRDS clinical screening need to be found.