Study On Relationship Between ABCA3 Gene Mutation And Neonatal Respiratory Distress Syndrome

Objective To study the relationship between ATP-binding cassette transporter A3(ABCA3)gene mutation and neonatal respiratory distress syndrome(RDS)to provide genetic research data for the prevention and treatment of neonatal RDS.Methods Case-control study was used.Totally 300 infants with gestational age ≥32 weeks were recruited,among which,150 of RDS(case group)and 150 of no-RDS(control group).The genomic DNA was extracted by using DNA kits in every individual from peripheral blood.Extraction of venous blood in every infant with 2 ml.DNA-pool was established by combining every 5 individual DNA.Targeted genomic enrichment methods was used(Agilent).Next generation sequencing platform(Illumina Hiseq 2000)was used to perform resequencing and data was analysis to identified missense mutation.Deleterious mutation was predicted by SIFT and Polyphen2 software.Sanger sequencing was used to validate the functional mutation.Collapsing methods was used to analyze the minor allele frequency(MAF).Result(1)Altogether,307 variants were found,including 10 missense variants,15 synonymous variants,258 intronic variants,2 splice regionalvariants,2 upstream variants,13 downstream variants,3 in 3′UTR and 4 in5 ′ UTR.(2)None mutation was found in case group.Two heterozygous mutations(V337M,I1383M)were found in control group in two individuals.The collapsing MAF of ABCA3 mutation was 0.67% and carrier rate was 1.33%in control group.Conclusion Frequency of mutations ABCA3 gene is very low in preterm infants in southern Guangxi.ABCA3 is unlikely to contribute to neonatal RDS in preterm infants.