Association Between ABCA3Gene Variation And Neonatal Respiratory Distress Syndrome

Objective:To investigate the relationship of ABCA3gene variation and neonatal respiratory distress syndrome and explore the pathogenesis of neonatal respiratory distress syndrome on gene level by studying the variation in ABCA3gene exon22.Methods:52neonatal respiratory distress syndrome (NRDS) cases were recruited from four tertiary hospitals in Nanning, and52cases without NRDS were recruited as control group. DNA was extracted from blood sample and22nd exon of ABCA3gene was amplified by polymerase chain reaction (PCR). Variants was indentified by sequencing methord and variants was analysed and compared between two groups.Results:(1) A heterozygous mutation (3097A>G) was found in three NRDS cases, which resulted codon GGA substituted by AGA in1033coding loci (G1033R). No any mutation be found in control group.(2) Case group was in Hardy-Weinberg equilibrium (P>0.05), which means case group is a representative group.(3)Frequency of two genotypes of GG and GA was94.23%and5.77%in case group,100%and0%in control group, respectively. Allele frequency of G and A was97.12%and2.88%in case group,100%and0%in control group, respectively. Statistics showed that genotype of GA and allele A contribute to the high risk of NRDS (OR=1.061,95%CI:0.992-1.135and (OR=1.030,95%CI:0.996-1.064, respectively).Conclusions:ABCA3G1033R may be associated with NRDS and A allele may be a high risk factor for NRDS.