Bcl Ⅰ And Hind Ⅲ Polymorphismin Genetic Diagnosis Of Hemophilia A

Objective:Haemophilia A (HA) is the most common X-linked recessive bleeding disorder. According to the latest survey shows the U.S. affecting one in 5000 to 10,000 males, female patients with a rare as well. It is caused by a wide variety of heterogeneous and infrequent mutations in the Fâ…§gene, which leads to a deficiency or dysfunctional factor VIII protein, an essential cofactor in the factor X activation complex.To investigate the application of the Bcl I (intron 18) and Hindâ…¢(intron 19) genetic ploymorphism in patients and family members of the diagnosis and carrier detection within Fâ…§gene.Methods: First, screening and registration of patients with hemophilia A.The specific screening procedures:1.The screening tests including: Silicified clotting time (SCT). Activated partialthromb-oplastin time (APTT), Recalcification time(RT) and Clotting time tube method (CT).2.The diagnose experiments include:detection of coagulation factorâ…§activity(Fâ…§:C) and the human factor VIII related antigen (Fâ…§:Ag).3. The identification tests include:bleeding (BT), von Willebrand factor antigen (VWF:Ag), plasma prothrombin time(PT).4.The exclusion tests include:Recalcification experiments or throngh APTT crossover crossing as the exclusion experimentofthe Acquired hemophilia.These are 8 HA patients and their family members a total of 45 was comfirmed by the above screening program.The Polymerase Chain Reaction-Restrict Fragment Length Polymorphism(PCR-RFLP) was used to detect the Bcl I (intron 18) and Hindâ…¢(intron 19) within Fâ…§gene on the X chromosome.The PediDraw software online which provided by China Genetic Counseling Network was used to draw the genealogical tree.Results:According to the activity of Fâ…¦:C among the total 8 probands, these are 4 cases of the severe (Fâ…§:Cactivity was lower than healthy individuals of 1%),3 cases of the HA medium (Fâ…§:Cactivity is equivalent to healthy individuals of 1% to 5%), an artificial light (Fâ…§:Cactivity in healthy people the equivalent of 5% to 25%). Combined detection of the Bcl I and Hindâ…¢genetic polymorphism site for the 8 haemophilia A family,5 were diagnosised, diagnostic rate of about 62.57%. and there are two families accompanied by mutations in two sites. Besides.6 of 11 doubtful carriers could be made the definite diagnosis while the ratio is 54.5%.ConcIusion:Combination of Bcl I and Hindâ…¢could elevate the ratio of diagnosis among HA patients and carriers.