Study On Clinical And Pathologic Mechanism Of Hereditary Antithrombin Deficiency

Hereditary antithrombin(AT) deficiency is an autosomal dominant trait disorder, which was characterized by occurring venous thromboembolism(VTE) repeatedly from childhood, mostly with a family history. Hereditary AT deficiency is a major inherited risk factor of VTE, the prevalence of hereditary AT deficiency in patients presenting with VTE is 1% to 8%. Up to now the large scale investigation of population to AT deficiency in China was absent but only several cases were reported. In this study a family with type I hereditary AT deficiency was identified and a novel AT gene nonsense mutation was discovered by molecular bioresearch. The mainly empirical methods and results is following.Objectives (1) To study the phenotype, family survey and clinical diagnosis for a patient with phlebothrombosis and his family. (2) First, to perform sequence assay of AT gene for the patient and his famil; Then, to find the causative mutation and heredity regularity; Finally, to do some primary researches on the pathology mechanisms about this case.Methods (1) Immuno-nephelometry and chromogenic assay were used to detect the plasma level of AT:A and AT:Ag to a patient who was diagnosed multiple phlebothrombosis by color Doppler ultrasonography. (2) With a family survey, the AT:A and AT:Ag of 14 members in this family constellation 3 generations were detected. (3) Genomic DNA was isolated from the peripheral blood, all the seven exons and...