ObjectiveTo study the relationship between ATP-binding cassette transporter A3 (ABCA3) gene mutation and respiratory distress syndrome in preterm infants. MethodsA total of 207 cases of preterm infants were recruited as the research objects, including 123 respiratory distress syndrome (RDS) and 84 non-RDS. Sequenom′s Mass Array methods was used to analyzed the genotype of the three mutation (G205R, G668D, G1608C) in ABCA3 gene. ResultsNone of mutation （GA、GA、GT）was found in RDS group（123 cases）and non-RDS group(84 cases), the genotype of G205R, G668D, G1608C were GG, GG, GG, respectively. ConclusionsThe mutation frequency of G205R, G668D, G1608C in ABCA3 gene is quite rare and the rate is low in preterm infants. Thus, there is not enough evidence to prove that the ABCA3 gene mutation is the risk for RDS in preterm infants.

无