Relationship between the EphB2 polymorphism and congenital anorectal malformation

Abstract

Objective To explore the distribution of-1395A/G polymorphism in the 6th exon region of EphB2 receptor gene among The Han People in Liaoning Province,and its association with congenital anorectal malformation(CAM).Methods The genotypes of-1395A/G polymorphism in EphB2 gene were detected by PCR-RFLP in the control group including 115 cases and 65 CAM patients.The frequencies of alleles and genotypes in the twin groups and the difference between these two groups were analyzed by SHEsis software onlinc.Results The frequencies of A allele and AA genotype of the-1395A/G polymorphism in the 6th exon region of EphB2 receptor gene in CAM patients and control groups were(0.854 vs.0.754)and(0.170 vs.0.043)respectively.Conclusions There is an association between the polymorphism of-1395A/G in the 6th exon region of EphB2 receptor gene and CAM. Key words: Anus,abnormalities; Rectum,abnormalities; Receptor,EphB2; Single nucleotide,polymorphism