细胞型血小板活化因子乙酰水解酶Ⅱ基因变异及其与急性脑梗死相关性研究  

Study of platelet activating factor-acetylhydrolase gene mutation and its relation to acute cerebral infarction

作　　者：陈蓓蕾 袁成林 张雄 

机构地区：[1]扬州大学临床医学院神经科,江苏扬州225009

出　　处：《中风与神经疾病杂志》2008年第1期43-45,共3页Journal of Apoplexy and Nervous Diseases

基　　金：江苏省社会发展计划科技基金资助项目(BS2002021)

摘　　要：目的了解细胞型血小板活化因子乙酰水解酶Ⅱ活性中心部位编码基因是否存在变异,以及所存在变异与急性脑梗死是否可能有关。方法采用PCR-变相高效液相色谱方法检测细胞型PAF-AHⅡ活性中心所在部位及其周围的杂合突变。结果在急性脑梗死组发现8号外显子上Thr241Ser,在健康对照组中未发现该变异。基因变异标本酶活力明显低于健康对照组。结论细胞型血小板活化因子乙酰水解酶Ⅱ8号外显子上存在Thr241Ser,该变异与急性脑梗死可能有关。Objective To study if there is any mutations in the gene of the active center of platelet activating factor- acetylhydrolase Ⅱ and if the mutions have relation to acute cerebral infarction. Methods To search mutations in the gene of the active center of platelet activating factor-acetylhydrolase Ⅱ with PCR-DHPLC. Results There was Thr241Ser mutation in the 8th exon of platelet activating factor-acetylhydrolase Ⅱ gene in acute cerebral infarction patients while there was no mutation in the gene of healths. The activity of the enzyme with Thr241Ser was significantly lower than that of the control group. Conclusion There is Thr241Ser mutation in the 8th exon of platelet activating factor-acetylhydrolase Ⅱ gene and it probably has relation to acute cerebral infarction.

关 键 词：血小板活化因子乙酰水解酶Ⅱ 基因 突变 急性脑梗死 

分 类 号：R743.3[医药卫生—神经病学与精神病学]