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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 the genomic HoxA 13 gene in children with congenital anorectal malformation. Methods Polymerase chain reaction single strand conformation polymorphism (PCR SSCP) was used to detect the base changes in the conserved region of exon 2 of HoxA 13 gene in 90 cases of congenital anorectal malformation. 50 normal children were enrolled in PCR SSCP control; Positive PCR products were confirmed by DNA sequencing to confirm the gene mutation. Results Two cases of high malformations were confirmed by PCR SSCP and DNA sequencing. Point mutation (T → G) occurred in the 15 8bp of exon 2 of HoxA 13 gene because the corresponding amino acids also changed (isoleucine → serine), so there is a point mutation. Conclusion Some HoxA 13 gene mutations in some congenital anorectal malformations occur in point mutations. HoxA 13 gene may be one of the susceptible genes in congenital anorectal malformations.