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

Objective To study if there is any mutations in the gene of the active center of platelet activating factor-acetylhydrolaseⅡ 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-acetylhydrolaseⅡ with PCR-DHPLC. Results There was Thr241Ser mutation in the 8th exon of platelet activating factor-acetylhydrolaseⅡ 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-acetylhydrolaseⅡ gene and it probably has relation to acute cerebral infarction.