中华小儿外科杂志
中華小兒外科雜誌
중화소인외과잡지
Chinese Journal of Pediatric Surgery
2015年
10期
754-757
,共4页
张晓杰%耿辉%马岩%孙利伟
張曉傑%耿輝%馬巖%孫利偉
장효걸%경휘%마암%손리위
肥厚性幽门狭窄%促胃动素%基因突变
肥厚性幽門狹窄%促胃動素%基因突變
비후성유문협착%촉위동소%기인돌변
Hypertrophic pyloricstenosis%Motilin%Gene mutation
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(NC 000006.12)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x2 =7.47,P=0.006);发病年龄为1～150 d,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x2=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.
目的 探討先天性肥厚性幽門狹窄(congenital hypertrophic pyloric stenosis,CHPS)患兒胃動素基因的變化.方法 選取2013年1月至2013年12月在長春市兒童醫院外科住院的漢族先天性肥厚性幽門狹窄患兒60例為觀察組,同期在醫院進行健康體檢的漢族健康兒童30例作為對照組.收集所有研究對象一般資料;採集靜脈血,提取外週血染色體DNA,對胃動素(motilin,MTL)基因第二外顯子序列進行PCR擴增,擴增產物直接測序,測序結果在線與基因庫(NC 000006.12)基因組序列進行逐一比對分析.結果 CHPS患兒男50例,女10例,男女比為5∶1,男性患病率明顯高于女性(經卡方檢驗x2 =7.47,P=0.006);髮病年齡為1～150 d,平均為(25.58±23.97)d,9～30日齡為高髮年齡;鼕春季為髮病高峰季節,佔全年病例的71.67％.60例CHPS患兒21例齣現堿基缺失,堿基缺失髮生率為35％,其中9例有G堿基缺失,3例有A堿基和9例T堿基缺失;22例存在堿基置換,置換率為36.67％,明顯高于對照組(經卡方檢驗x2=9.205,P=0.002).堿基置換導緻3種錯義突變:賴氨痠(AAA)變成異亮氨痠(ATA),囌氨痠(ACA)變成丙氨痠(GCA),酪氨痠變成(TAC)變成半胱氨痠(TGC).結論 CHPS患兒男性多于女性;胃動素基因改變可能與CHPS髮病有關.分析CHPS患兒胃動素基因對于明確其髮病原因有重要意義.
목적 탐토선천성비후성유문협착(congenital hypertrophic pyloric stenosis,CHPS)환인위동소기인적변화.방법 선취2013년1월지2013년12월재장춘시인동의원외과주원적한족선천성비후성유문협착환인60례위관찰조,동기재의원진행건강체검적한족건강인동30례작위대조조.수집소유연구대상일반자료;채집정맥혈,제취외주혈염색체DNA,대위동소(motilin,MTL)기인제이외현자서렬진행PCR확증,확증산물직접측서,측서결과재선여기인고(NC 000006.12)기인조서렬진행축일비대분석.결과 CHPS환인남50례,녀10례,남녀비위5∶1,남성환병솔명현고우녀성(경잡방검험x2 =7.47,P=0.006);발병년령위1～150 d,평균위(25.58±23.97)d,9～30일령위고발년령;동춘계위발병고봉계절,점전년병례적71.67％.60례CHPS환인21례출현감기결실,감기결실발생솔위35％,기중9례유G감기결실,3례유A감기화9례T감기결실;22례존재감기치환,치환솔위36.67％,명현고우대조조(경잡방검험x2=9.205,P=0.002).감기치환도치3충착의돌변:뢰안산(AAA)변성이량안산(ATA),소안산(ACA)변성병안산(GCA),락안산변성(TAC)변성반광안산(TGC).결론 CHPS환인남성다우녀성;위동소기인개변가능여CHPS발병유관.분석CHPS환인위동소기인대우명학기발병원인유중요의의.
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 shownthat the incidence of boys with CHPS was more than girls (x2 =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 (x2 =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.
