A Study On The Relationship Between Respiratory Distress Syndrome And ABCA3 Gene In The Han Nationality In Western Inner Mongolia

Objective:Neonatal respiratory distress syndrome(NRDS)also was known as hyaline membrane disease,the main cause of this disease was due to the lack of pulmonary surfactant,which would decrease alveolar tension and limite alveolar expansion.The clinical symptoms were dyspnea,respiratory failure and so on.90% of the composition of pulmonary surfactant was lipid.ATP—binding cassette transporters A3(ABCA3)was one number of the ABC transporter subfamily,whose function was mainly to assist the lipid membrane transport to lamellar body,and complete the final process of machining and folding of the pulmonary surfactant in lamellar body.It played an important role in maintaining synthesis and homeostasis of pulmonary surfactant.In this study,we sequenced and analyzed the ABC binding cassette transporter A3(ABCA3)exon 10,and investigated whether there was gene mutation or polymorphism distribution in the region of ABCA3 exon10.In this way,it help us to investigate the relationship between gene mutation or polymorphism and the incidence of NRDS in the Han nationality in the west of Inner Mongolia,and to explore the pathogenesis of this disease.Methods: Using case-control study,we collected 53 infants who were hospitalized in neonatal intensive care unit of the Inner Mongolia Medical University Affiliated Hospital from September 2014 to September 2016 as case group.And 53 non-NRDS infants from same period,same nation and same ethnic group were selected as control group.Genomic DNA was extracted respectively.Then,ABCA3 exon 10 was amplified by means of polymerase chain reaction,then the amplified products were sequenced directly to see if there were mutations or polymorphisms in the exon 10 of ABCA3 gene in these two groups.Result:(1)In the exon 10 rs13332514(F353F)site of ABCA3,there was a single base point mutation C>T,the codon was changed from TTC to TTT,but the amino acid of the coding site of 353 rd did not change.This single base point mutation was existed both in the case group and control group.There was 16 cases had this single base point mutation in NRDS group,the mutation rate was 30.2%,and in the non-NRDS group,there was 7 cases existed this mutation,the mutation rate was 13.2%.The mutation rate in the case group was higher than that in the non-NRDS group(X2=4.498,P=0.034).The difference was statisticallysignificant.(2)In NRDS group,exon 10 rs13332514(F353F)on ABCA3 can be detected three genotypes: namely CC?CT and TT,the genotype frequencies were: 69.8%,20.8% and 9.4%,respectively.Allele frequency of C and T was 80.2% 19.8%.In the control group,there were two genotypes: CC and CT,the frequencies were 86.8% and 13.2%,respectively.Allele frequency of C and T was 93.4% and 6.6%.The frequency of T allele in NRDS group was significantly higher than that in the control group.The difference was statistically significant(x2=8.065 P<0.05).Conclusion: In the exon 10 rs13332514(F353F)site of ABCA3,there was a single base point mutation C>T,which may be related to the occurrence of NRDS in the Han nationality in the west of Inner Mongolia,Allele T may be one of the predisposing factors which may increase the incidence of NRDS in the Han newborns in this region.