ABSTRACT
Objective To screen the neonatal malrotation with PITX2 gene exon 2 and 5 gene mutation through the study on molecular genetics.Methods From January 201 2 to December 201 4,1 5 cases of neonatal malro-tation infants(experimental group)and 25 healthy newborn infants(healthy control group)were selected as the research subjects from the First Affiliated Hospital of Shihezi University Medical College.The experimental group included 1 5 ca-ses of volvulus,4 cases of volvulus with duodenal atresia and 3 cases of volvulus with jejunal atresia.The clinical fea-tures were recorded and 3 mL peripheral venous blood from each subject was collected.After ethylenediamine tetraacetic acid (EDTA)anticoagulation,genomic DNA was extracted.Polymerase chain reaction (PCR)was used to amplify the exon 2 and exon 5 of PITX2 gene,and the direct sequencing method was used to screen whether there were mutations in these 2 loci.Results According to the findings of the matching gene,PITX2 gene exon 2 and exon 5 mutations were not detected in 15 cases with intestinal malrotation of the experimental group and 25 healthy newborns in the healthy control group.Conclusions Polymorphisms is not detected in PITX2 gene exon 2 and exon 5 in small groups of newborn,but this does not exclude the possibility the gene caused newborns suffering from intestinal malrotation by other means.