中华小儿外科杂志
中華小兒外科雜誌
중화소인외과잡지
CHINESE JOURNAL OF PEDIATRIC SURGERY
2010年
12期
910-913
,共4页
贾慧敏%王晓东%高红%陈青江%张涛%王维林
賈慧敏%王曉東%高紅%陳青江%張濤%王維林
가혜민%왕효동%고홍%진청강%장도%왕유림
肛管,畸形%直肠,畸形%DNA突变分析%遗传筛查
肛管,畸形%直腸,畸形%DNA突變分析%遺傳篩查
항관,기형%직장,기형%DNA돌변분석%유전사사
Anal canal,abnormalities%Rectum,abnormalities%DNA mutation analysis%Genetic screening
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.
目的 探討WNT5a基因突變與先天性肛門直腸畸形(anorectal malformations,ARMs)髮生的關繫.方法 採用PCR和DNA直接測序的方法,檢測88例ARMs患兒和120名健康兒童WNT5a基因第1、2外顯子突變情況.結果 3例ARMs患兒存在WNT5a基因第2外顯子多點突變,正常對照組未見突變髮生.結論 WNT5a基因第2外顯子的突變與ARMs可能存在相關性.
목적 탐토WNT5a기인돌변여선천성항문직장기형(anorectal malformations,ARMs)발생적관계.방법 채용PCR화DNA직접측서적방법,검측88례ARMs환인화120명건강인동WNT5a기인제1、2외현자돌변정황.결과 3례ARMs환인존재WNT5a기인제2외현자다점돌변,정상대조조미견돌변발생.결론 WNT5a기인제2외현자적돌변여ARMs가능존재상관성.
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.
