EphB2基因多态性与先天性肛门直肠畸形的相关性研究

Relationship between the EphB2 polymorphism and congenital anorectal malfornmtion

目的探讨EphB2受体基因第6外显子的-1395A／G多态性在辽宁地区汉族人群中的分布及其与先天性肛门直肠畸形（CAM）的关系。方法采用PCR-RFLP方法，对65例CAM患儿和115名健康儿童EphB2基因-1395A／G多态位点进行基因型检测，用HEsis在线统计软件分析等位基因频率、基因型频率及其组间差异。结果EphB2受体基因第6外显子的-1395A／G多态A等位基因频率及AA基因型频率在CAM组（85．4％、75．4％）与正常对照组（17．0％、4．3％）间差异有显著统计学意义（P〈0．01）。结论EphB2受体基因第6外显子的-1395A／G多态与CAM存在相关性。

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 online. Results The frequencies of A allele and AA geno- type 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.