中文摘要：

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。

英文摘要：

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.