先天性肛门直肠畸形WNT5a基因突变的筛查分析

Mutation screening of WNT5a in anorectal malformations

目的 探讨WNT5a基因突变与先天性肛门直肠畸形（anorectal malformations,ARMs）发生的关系.方法 采用PCR和DNA直接测序的方法,检测88例ARMs患儿和120名健康儿童WNT5a基因第1、2外显子突变情况.结果 3例ARMs患儿存在WNT5a基因第2外显子多点突变,正常对照组未见突变发生.结论 WNT5a基因第2外显子的突变与ARMs可能存在相关性.

Objective To explore the relationship between WNT5a gene mutations and the development of human anorectal malformations （ARMs）. Methods PCR and DNA sequencing were used to detect the gene mutation of WNT5a gene in exons 1 （ E1 ） and 2 （E2） in 120 normal controls and 88 patients with ARMs. Results The mutation rate of WNT5a E2 was 3.4% in patients with ARMs,while no mutation of WNT5a E2 was noted in normal cases. There was no mutation in WNT5a E1 in controls or patients with ARMs. Conclusions The mutation of WNT5a E2 might be associated with the pathogenesis of ARMs.