中华心血管病杂志
中華心血管病雜誌
중화심혈관병잡지
Chinese Journal of Cardiology
2012年
5期
402-405
,共4页
李健%丁建东%方翔%张华%郑若龙%崔俊友%高春恒%王点%马根山
李健%丁建東%方翔%張華%鄭若龍%崔俊友%高春恆%王點%馬根山
리건%정건동%방상%장화%정약룡%최준우%고춘항%왕점%마근산
心脏缺损,先天性%金属蛋白酶类%突变
心髒缺損,先天性%金屬蛋白酶類%突變
심장결손,선천성%금속단백매류%돌변
Heart defects,congenital%Metalloproteases%Mutation
目的 在中国散发性先天性心脏病患者中检测金属蛋白酶Tolloid样1(TLL-1)基因的突变.方法 入选115例散发性先天性心脏病患者作为先天性心脏病组,性别、年龄相匹配的102例健康者作为对照组.应用常规饱和酚-氯仿法提取基因组DNA,采用聚合酶链反应结合DNA测序技术对先天性心脏病组和对照组金属蛋白酶TLL-1基因的外显子10进行序列检测,并分析金属蛋白酶TLL-1基因的突变情况.结果 在先天性心脏病组的3例房间隔缺损、2例室间隔缺损、1例动脉导管未闭和1例复杂先天性心脏病患者中发现金属蛋白酶TLL-1基因外显子10第60位插入1个碱基A,而正常对照组未发现此突变,先天性心脏病组与对照组的碱基突变发生率差异有统计学意义(6.1％比0,P＜0.01).结论 中国散发性先天性心脏病人群中存在金属蛋白酶TLL-1基因外显子10第60位碱基A插入,其导致先天性心脏病的机制有待进一步研究.
目的 在中國散髮性先天性心髒病患者中檢測金屬蛋白酶Tolloid樣1(TLL-1)基因的突變.方法 入選115例散髮性先天性心髒病患者作為先天性心髒病組,性彆、年齡相匹配的102例健康者作為對照組.應用常規飽和酚-氯倣法提取基因組DNA,採用聚閤酶鏈反應結閤DNA測序技術對先天性心髒病組和對照組金屬蛋白酶TLL-1基因的外顯子10進行序列檢測,併分析金屬蛋白酶TLL-1基因的突變情況.結果 在先天性心髒病組的3例房間隔缺損、2例室間隔缺損、1例動脈導管未閉和1例複雜先天性心髒病患者中髮現金屬蛋白酶TLL-1基因外顯子10第60位插入1箇堿基A,而正常對照組未髮現此突變,先天性心髒病組與對照組的堿基突變髮生率差異有統計學意義(6.1％比0,P＜0.01).結論 中國散髮性先天性心髒病人群中存在金屬蛋白酶TLL-1基因外顯子10第60位堿基A插入,其導緻先天性心髒病的機製有待進一步研究.
목적 재중국산발성선천성심장병환자중검측금속단백매Tolloid양1(TLL-1)기인적돌변.방법 입선115례산발성선천성심장병환자작위선천성심장병조,성별、년령상필배적102례건강자작위대조조.응용상규포화분-록방법제취기인조DNA,채용취합매련반응결합DNA측서기술대선천성심장병조화대조조금속단백매TLL-1기인적외현자10진행서렬검측,병분석금속단백매TLL-1기인적돌변정황.결과 재선천성심장병조적3례방간격결손、2례실간격결손、1례동맥도관미폐화1례복잡선천성심장병환자중발현금속단백매TLL-1기인외현자10제60위삽입1개감기A,이정상대조조미발현차돌변,선천성심장병조여대조조적감기돌변발생솔차이유통계학의의(6.1％비0,P＜0.01).결론 중국산발성선천성심장병인군중존재금속단백매TLL-1기인외현자10제60위감기A삽입,기도치선천성심장병적궤제유대진일보연구.
Objective To explore whether there are gene mutations of Tolloid-like 1 ( TLL-1 ) gene in Chinese patients with sporadic congenital heart disease (CHD).Methods One hundred and fifteen patients with sporadic CHD were selected as CHD group.One hundred and two age and gender-matched healthy people were recruited as control group.After amplifying the exon 10 of the TLL-1 gene by polymerase chain reaction,the polymerase chain reaction products were purified,sequenced and analyzed in order to investigate the TLL-1 gene mutation.Results An insertion mutation of base A in the exon 10 of TLL-1 gene was identified in 7 out of 115 CHD patients,including 3 patients with atrial septal defect,2 patients with ventricular septal defect,1 patients with patent ductus arteriosus and 1 patients with complex CHD,the total mutation rate was 6.1％ in CHD group and 0 in control group ( P ＜ 0.01 ).Conclusions TLL-1 gene mutation with an insertion mutation of base A in exon 10 is often in Chinese patients with various CHD.The underlying pathogenesis between TLL-1 gene mutation and occurrence of congenital heart disease in Chinese people remains unclear and warrants further investigations.
