Relationship between polymorphism of surfactant protein gene C and neonatal respiratory distress syndrome / 中华实用儿科临床杂志

ABSTRACT

Objective Neonatal respiratory distress syndrome (NRDS) is one of the severe respiratory complications in the early stage after birth.NRDS can develop ingravescence respiratory difficulty due to insufficient pulmonary surfactant and its mortality is very high.This research was to study the common mutation sites of surfactant pulmonary-associated protein C (SFTPC) gene and its relationship with NRDS.Methods All 46 neonates with NRDS at the Department of Neonatology,Children's Hospital of Fudan University from January 2012 to March 2015 were assigned as case group and other 44 neonates without NRDS as control group.All cases were Han race.SP-C gene was tested with Sanger sequencing based genetic testing.All data were analyzed with SPSS 20.0 software.Results There was no significant difference in sex,gestational age,birth weight or mode of delivery between case group and control group(all P ＞ 0.05).The mutations reported in European and African neonates with respiratory distress syndrome were not found in this study.There were 3 nonsense mutations in the study group,c.-1614C ＞ A,c.-1504G ＞ A and c.-368A ＞ G,and their Regulome DB Scores were 4,5 and 5 scores.There was a significant difference in the mutation at the spot rs8192308 between the two group and their Regulome DB Scores was 5 scores.Conclusion The mutation in spot rs8192308 may have relationship with the risk of NRDS in Han race of Shanghai city.