Plasma Platelet-activating Factor Acetylhydrolase (paf-ah) Gene Mutations In Jiangsu Province Han Thrombosis Incidence Study

Objective To study on the exon 4, 7, 9, 11 polymorphism of plasma PAF-AHgene,furthermore research the correlation between the mutation or polymorphism of platelet activating factor acetyltiydrolase gene and brain thrombosis disease in Jiangsu Province of Chinese ,and observe the correlations between plasma PAF-AH activity and brain thrombosis in Chinese Han Population of Jiangsu Province.The first fraction: Study on the exon 4, 7, 9, 11 polymorphism ofplasma PAF-AH geneMethods PCR, DHPLC were used to examine the exon 4, 7, 9, 11 polymorphismof plasma PAF-AH gene in Chinese Han Population of Jiangsu Province.Results The DHPLC find the exon 7,9 polymorphism . The exon 7 polymorphism(Ile198Thr, position 593; Tâ†'C), which mution frequencies was 12.67% in brain thrombosis group and 11% in control group. The exon 9 polymorphism (Val279Phe, position 994; Gâ†'T mution),which GT mution frequencies and the frequency of the mutation allele was 18.67% , 10% in brain thrombosis group and 8%, 4% in control group. The DHPLC do not find the exon 4, 11 polymorphism.Conclusion The G994 mution of exon 9 may be a genetic risk factor for brainthrombosis disease, the T593C mution of exon 7 may be not a genetic risk factor for brain thrombosis disease.The second fraction: Study on the PAF-AH activity in health and brain thrombosis people in Han Population of Jiangsu ProvinceMethods Caymen assay kit measure PAF-AH activity in Chinese Han Population ofJiangsu Province.Results Plasma PAF-AH activity with GG and GT genotype are significantly higherin patient with brain thrombosis than those in control subjects(P<0.05). The differences in mutation were not significant between different risk factors.Conclusion Plasma PAF-AH activities with homozygous and heterozygous ofmutation are obvious decreased which may increase the risk in brain thrombosis disease. Enzyme deficiency in the plasma caused by PAF acetylhydrolase gene mutation may bea genetic risk factor for patient with brain thrombosis in Chinese Han Population of Jiangsu Province.