HGM2002 Poster Abstracts: 7. Medical Genomics
POSTER NO: 280
Long Distance-PCR Detection of Coagulation Factor VIII Inversion Causing Severe Hemophilia A in Shandong Province
Peifang Ding, Qinyou Wang, Qinwei Li, Fakui Shen
Objective: To improve the level of diagnosing severe hemophilia A (HA)and carrier. Methods: According to the bleeding symptom and hereditary feature of the patients. The plasma coagulation factor VIII activity (FVIII:C) was detected by 0ne-stage Method. The concentration of von Willbrand Factor antigen (vWF:Ag) was assayed by ELISA. 55 cases were diagnosed severe HA. In order to find whether there are the factor VIII gene inversion in the severe HA patients in Shandong Province, 55 cases and their mothers or aunts were detected by using Long Distance Polymerase Chain Reaction (LD-PCR). Results: 22 out of 55 cases were the factor VIII gene inversion, which were 40% of total number of the severe HA. 5 cases of the factor VIII gene inversion in 22 carriers were diagnosed, too. Conclusion: LD-PCR technique which was used to detect the factor VIII gene inversion can exactly, simpler, faster and direct diagnose the severe HA and their carriers.
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