CAJ | 학술논문

目的：调查法布里病及α－半乳糖苷酶基因（ GLA基因）变异在国人青年缺血性卒中患者中的出现情况。方法本研究连续纳入2012年10月至2014年3月就诊于首都医科大学宣武医院卒中单元的年龄在18～55岁的缺血性卒中患者，收集其临床资料，并采集外周血，提取DNA，进行PCR扩增GLA基因7个外显子及相邻内含子，并进行测序，在缺血性卒中人群中进行法布里病出现率的调查。结果（1）共连续纳入符合条件的青年缺血性卒中患者269例，其中脑梗死239（88．8％）例，短暂性脑缺血发作及后循环缺血30（11．2％）例，平均年龄（44±8）岁，男女比例为4∶1（男216例，占80．3％；女53例，占19．7％），TOAST分型以大动脉粥样硬化为主，占55．4％；（2）在所检269例青年缺血性卒中患者中，未检出一例明确法布里病致病突变。有12例患者出现c．－12G＞A点突变，20例患者c．－10C＞T点突变，这两个位点均位于外显子1的5′端非翻译区，该2个功能多态位点在不同TOAST分型中分布差异有统计学意义。结论法布里病在国人青年缺血性卒中患者中的出现率并不高，c．－10C＞T位点突变在国人不同TOAST卒中亚型中存在差异，其意义还有待于进一步研究。
목적：조사법포리병급α－반유당감매기인（ GLA기인）변이재국인청년결혈성졸중환자중적출현정황。방법본연구련속납입2012년10월지2014년3월취진우수도의과대학선무의원졸중단원적년령재18～55세적결혈성졸중환자，수집기림상자료，병채집외주혈，제취DNA，진행PCR확증GLA기인7개외현자급상린내함자，병진행측서，재결혈성졸중인군중진행법포리병출현솔적조사。결과（1）공련속납입부합조건적청년결혈성졸중환자269례，기중뇌경사239（88．8％）례，단잠성뇌결혈발작급후순배결혈30（11．2％）례，평균년령（44±8）세，남녀비례위4∶1（남216례，점80．3％；녀53례，점19．7％），TOAST분형이대동맥죽양경화위주，점55．4％；（2）재소검269례청년결혈성졸중환자중，미검출일례명학법포리병치병돌변。유12례환자출현c．－12G＞A점돌변，20례환자c．－10C＞T점돌변，저량개위점균위우외현자1적5′단비번역구，해2개공능다태위점재불동TOAST분형중분포차이유통계학의의。결론법포리병재국인청년결혈성졸중환자중적출현솔병불고，c．－10C＞T위점돌변재국인불동TOAST졸중아형중존재차이，기의의환유대우진일보연구。
Objective To investigate the prevalence of Fabry disease and GLA gene mutations in young patients with ischemic stroke.Methods A total of 269 consecutive hospitalized patients of ischemic stroke,aged between 18-55 years,were recruited.DNA was extracted from peripheral blood.And 7 exons and flanking introns of α-galactosidase gene ( GLA ) were sequenced.Results The cases were cerebral infarction (n=239,88.8%) transient ischemic attack and posterior circulation ischemia (n=30,11.2%). There were 216 males and 53 females with a mean age of 44 ±8years.Large artery atherosclerosis was predominant at 55.4%according to the TOAST classifications.Among them,there were c.-12G>A point mutation (n=12) and c.-10C>T mutation (n=20).These two sites were located in the 5 ′end of non-untranslated region in exon 1.Both loci were polymorphic loci.No disease-causing mutations were detected.Conclusion The prevalence of Fabry disease in young stroke patients is not high as in Western countries;there has some difference in TOAST types between patients with c.-10C>T mutation and without, further studies are needed to testing the significance.