中华小儿外科杂志
中華小兒外科雜誌
중화소인외과잡지
CHINESE JOURNAL OF PEDIATRIC SURGERY
2008年
5期
284-287
,共4页
王大佳%白玉作%卢瑶%高红%张志波%黄英%王练英%袁正伟%王维林
王大佳%白玉作%盧瑤%高紅%張誌波%黃英%王練英%袁正偉%王維林
왕대가%백옥작%로요%고홍%장지파%황영%왕련영%원정위%왕유림
肛门,畸形%直肠,畸形%受体,EphB2%多态性,单核苷酸
肛門,畸形%直腸,畸形%受體,EphB2%多態性,單覈苷痠
항문,기형%직장,기형%수체,EphB2%다태성,단핵감산
Anus,abnormalities%Rectum,abnormalities%Receptor,EphB2%Single nucleotide,polymorphism
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SHEsis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.
目的 探討EphB2受體基因第6外顯子的-1395A/G多態性在遼寧地區漢族人群中的分佈及其與先天性肛門直腸畸形(CAM)的關繫.方法 採用PCR-RFLP方法,對65例CAM患兒和115名健康兒童EphB2基因-1395A/G多態位點進行基因型檢測,用SHEsis在線統計軟件分析等位基因頻率、基因型頻率及其組間差異.結果 EphB2受體基因第6外顯子的-1395A/G多態A等位基因頻率及AA基因型頻率在CAM組(85.4%、75.4%)與正常對照組(17.0%、4.3%)間差異有顯著統計學意義(P＜0.01).結論 EphB2受體基因第6外顯子的-1395A/G多態與CAM存在相關性.
목적 탐토EphB2수체기인제6외현자적-1395A/G다태성재료녕지구한족인군중적분포급기여선천성항문직장기형(CAM)적관계.방법 채용PCR-RFLP방법,대65례CAM환인화115명건강인동EphB2기인-1395A/G다태위점진행기인형검측,용SHEsis재선통계연건분석등위기인빈솔、기인형빈솔급기조간차이.결과 EphB2수체기인제6외현자적-1395A/G다태A등위기인빈솔급AA기인형빈솔재CAM조(85.4%、75.4%)여정상대조조(17.0%、4.3%)간차이유현저통계학의의(P＜0.01).결론 EphB2수체기인제6외현자적-1395A/G다태여CAM존재상관성.
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.
