先天性无肛畸形HoxA-13基因的改变  

The mutation of HoxA-13 gene in congenital anorectal malformation

作　　者：张志波[1] 王练英[1] 李正[1] 高红[2] 

机构地区：[1]中国医科大学第二临床学院小儿外科,沈阳510080 [2]卫生部小儿先天畸形重点实验室

出　　处：《中华小儿外科杂志》2001年第5期269-270,共2页Chinese Journal of Pediatric Surgery

基　　金：国家自然科学基金资助;批准号 :39770 76 3

摘　　要：目的　检测先天性无肛畸形患儿基因组HoxA 13基因的改变。方法　应用聚合酶链反应 单链构象多态 (PCR SSCP)初步检测 90例先天性无肛畸形患儿基因组HoxA 13基因第二外显子保守区的碱基改变 ,5 0例正常患儿作PCR SSCP对照 ;阳性改变患儿PCR产物经DNA测序确定基因突变。结果　经PCR SSCP及DNA序列分析确定 2例高位畸形患者 ,HoxA 13基因第二外显子第 15 8bp发生了点突变 (T→G) ,因为相对应的氨基酸也发生了改变 (异亮氨酸→丝氨酸 ) ,因而是有了点突变。结论　某些先天性肛门直肠畸形患儿HoxA 13基因保守区发生点突变 ,HoxA 13基因可能是先天性肛门直肠畸形的易感基因之一。Objective To detect mutation of HoxA-13 gene in congenital anorectal malformation. Methods The mutation was detected by single strand conformational polymorphism (SSCP) of the 2nd exon of the candidate gene and followed by sequencing analysis. Results After analyzing 90 patients with congenital anorectal malformation by PCR-SSCP and DNA sequencing, a T→G mutation at the 158bp of 2nd exon of HoxA-13 gene was identified in 2 patients with high anorectal anomalies,corresponding to an isoleucine to serine conversion, which was considered significant. Conclusions The identification of the mutation in the candidate gene indicates that mutation of HoxA-13 gene is responsible for some congenital anorectal malformations.

关 键 词：基因 先天性肛门直肠畸形 儿童 HoxA-13基因 

分 类 号：R726.2[医药卫生—儿科] R726.571[医药卫生—临床医学]