摘要
目的探讨先天性肥厚性幽门狭窄（congenital hypertrophic pyloric stenosis,CHPS）患儿胃动素基因的变化。方法选取2013年1月至2013年12月在长春市儿童医院外科住院的汉族先天性肥厚性幽门狭窄患儿60例为观察组，同期在医院进行健康体检的汉族健康儿童30例作为对照组。收集所有研究对象一般资料；采集静脉血，提取外周血染色体DNA，对胃动素（motilin，MTL）基因第二外显子序列进行PCR扩增，扩增产物直接测序，测序结果在线与基因库（NC000006．12）基因组序列进行逐一比对分析。结果CHPS患儿男50例，女10例，男女比为5：1，男性患病率明显高于女性（经卡方检验χ2=7．47，P=0．006）；发病年龄为1～150d，平均为（25．58±23．97）d，9～30日龄为高发年龄；冬春季为发病高峰季节，占全年病例的71．67％。60例CHPS患儿21例出现碱基缺失，碱基缺失发生率为35％，其中9例有G碱基缺失，3例有A碱基和9例T碱基缺失；22例存在碱基置换，置换率为36．67％，明显高于对照组（经卡方检验χ2=9．205，P=0．002）。碱基置换导致3种错义突变：赖氨酸（AAA）变成异亮氨酸（ATA），苏氨酸（ACA）变成丙氨酸（GCA），酪氨酸变成（TAC）变成半胱氨酸（TGC）。结论CHPS患儿男性多于女性；胃动素基因改变可能与CHPS发病有关。分析CHPS患儿胃动素基因对于明确其发病原因有重要意义。
Objective To explore the motilin gene mutations in children with congenital hypertrophic pyloric stenosis （CHPS）. Methods Between January 2013 and December 2013, 60 hospitalized CHPS children of Han nationality were recruited as observation group. And another 30 healthy children of Han nationality were selected as controls during the same period. Their clinical data were collected and analyzed. Venous blood specimens were taken. DNA was extracted from peripheral blood. The sequences of the second exon of motilin gene were detected by the methods of polymerase chain reaction and DNA sequencing. The sequenced results were compared with the genome sequences （NC 000006. 12） that were deposited in Genbank online. Results There were 50 boys and 10 girls in 60 patients with CHPS. The proportion was 5 ： 1. It was shown that the incidence of boys with CHPS was more than girls （Z2 = 7. 47,P = 0. 006）. The age of onset was 1-150 days, and the mean age was 25. 58 ± 23. 97 days. The highest age of onset ranged between 9 and 30 days. 71.67% of cases were found in winter and spring months. Winter and spring were the peak seasons. The rate of base deletion was 35% （21/60）. There were 9 G base deletions, 3 A base deletions and 9 T base deletions. The rate of base substitution was 36. 67% （22/60） and it was significantly higher than that of control group （χ2 = 9. 205,P = 0. 002）. Base substitution caused 3 missense mutations of AAA→ATA, ACA→GCA and TAC→TGC respectively. Conclusions There were more males than females in children with CHPS. And motilin gene mutation may be associated with an onset of CHPS.
出处
《中华小儿外科杂志》
CSCD
2015年第10期754-757,共4页
Chinese Journal of Pediatric Surgery
基金
吉林省卫生厅计划项目（20112107）
