[Functional study of abnormal fibrinogen caused by Arg275His mutation in fibrinogen γ chain].

Objective: To investigate the function of abnormal fibrinogen in two inherited dysfibrinogenemia pedigrees.

Methods: Routine coagulation tests were conducted in the probands and related family members. The antigen and activity levels of fibrinogen were detected by immunoturbidimetry assay and clauss assay, respectively.

[The phenotypic and genotypic diagnosis of three Chinese patients with von Willebrand disease].

Objective: To analyze the phenotype and genotype of three patients with von Willebrand disease (vWD), and to explore its molecular pathogenesis.

Methods: Bleeding time (BT), APTT, ristocetin induced platelet aggregation (RIPA), von Willebrand factor (vWF):ristocetin cofactor (Rco) (vWF:Rco), vWF antigen (vWF:Ag), vWF activity (vWF:A) test, vWF collagen binding assay (vWF:CB) and multimer analysis were detected for phenotype diagnosis. The dynamic process of blood coagulation was evaluated by using the thrombelastography.

[Phenotype and genotype analysis of two Chinese pedigrees with type 3 von Willebrand diseases].

Objective: To analyze the phenotype and genotype of two Chinese pedigrees with von Willebrand diseases, and to investigate the molecular pathogenesis.

Methods: Bleeding time (BT), activated partial thromboplastin time (APTT), ristocetin-induced platelet aggregation (RIPA), von Willebrand factor-ristocetin cofactor (vWF:Rco), von Willebrand factor antigen (vWF:Ag), von Willebrand factor activity (vWF:A), von Willebrand factor collagen binding assay (vWF:CB) and multimer analysis were used for phenotype diagnosis. DNA was extracted.

[Genotype and function analyses of four inherited dysfibrinogenemia pedigree caused by Arg16 amino acid substitution in fibrinogen Aα chain].

Objective: To analyze the phenotype, genotype and function in four Chinese pedigrees with inherited dysfibrinogenemia.

Methods: Routing tests including activated partial thromboplastin time (APTT), prothrombin time (PT), thrombin time (TT), reptilase time (RT), the activities of antithrombin (AT), protein C (PC) and protein S (PS) were detected in four pedigrees. The activity and antigen of plasma fibrinogen were analyzed by Clauss and immunoturbidimetry methods, respectively.

[Molecular mechanisms of recurrent venous thrombosis in two pedigrees with type I antithrombin deficiency].

Objective: To investigate the clinical phenotype, genotype and molecular mechanism of recurrent venous thrombosis in two Chinese pedigrees with type I antithrombin (AT) deficiency.

Methods: The routine coagulation screening tests were detected, thrombin generation tests was performed to evaluate the hypercoagulation. Anticardiolipin antibody (ACA) and lupus anticoagulant (LA) were detected with enzyme-linked immunosorbent assay (ELISA) and diluted viper venom time assay (DVVT), respectively.

[Two novel mutations in one pedigree with hereditary Factor VII deficiency].

Objective: To explore the mutations of coagulation factor VII (FVII) gene in one pedigree with hereditary FVII deficiency, and to investigate the molecular mechanisms of FVII deficiency.

Methods: FVII gene mutations were analysed in the pedigree by direct DNA sequencing. The mutated DNA fragments were cloned into pMD19-T simple TA vector, and sequenced to confirm their distribution on chromosome.

[Analysis of phenotype and genotype in three Chinese pedigrees with inherited dysfibrinogenemia].

Objective: To analyze the phenotype and genotype in three Chinese pedigrees with inherited dysfibrinogenemia.

Methods: Laboratory tests including activated partial thromboplastin time (APTT), prothrombin time (PT), thrombin time (TT), reptilase time (RT), and the activities of antithrombin (AT:C), protein C (PC:C) and protein S(PS:C) were detected in three pedigrees. The activity and antigen of plasma fibrinogen (Fg) were analyzed by Clauss and immunoturbidimetry methods, respectively.

[Phenotype and genotype analysis of three Chinese pedigrees with von Willebrand disease].

Objective: To analyze phenotype and genotype of three Chinese pedigrees with von Willebrand disease (vWD), and explore the molecular mechanism.

Methods: Bleeding time (BT), activated partial thromboplastin time (APTT), ristocetin-induced platelet aggregation (RIPA), von Willebrand factor (vWF): ristocetin cofactor (RCof) (vWF:RCof), vWF antigen (vWF:Ag), vWF activity (vWF:A) test, vWF collagen binding assay (vWF:CB), vWF and Factor VIII (FVIII) binding assay (vWF:FVIII:B) and multimer analysis were used for phenotype diagnosis. Genomic DNA was extracted from the peripheral blood (PB).

[Analysis of phenotype and genotype in four Chinese pedigrees with inherited coagulation factor V deficiency.].

Objective: To identify the phenotype and genotype in four Chinese pedigrees with inherited coagulation factor V (FV) deficiency.

Methods: The tests of activated partial thromboplastin time (APTT), prothrombin time (PT), FV activity (FV:C) and FV antigen (FV:Ag) were used for phenotype diagnosis. All the exons and exon-intron boundaries of F5 gene were amplified by PCR and analyzed by direct sequencing.

[Two new mutations of AT gene in type I inherited antithrombin deficiency.].

Objective: To identify the clinical phenotype and gene mutation in two kindreds with type I inherited antithrombin (AT) deficiency.

Methods: The coagulation and anticoagulation testing and thrombophilia screening were used for phenotypic diagnosis and immunonephelometry and chromogenic assay for plasma level of AT antigen (AT:Ag) and AT activity (AT:A), respectively. All of the seven exons and intron-exon boundaries and untranslation regions of AT gene were amplified by PCR, and the PCR products analysis was by direct sequencing.

[The application of thrombin generation tests to warfarin anticoagulation monitoring].

Objectives: To explore the thrombin generation capacity in patients on warfarin therapy with different prothrombin time international normalized ratio (PT-INR), the capacity in relation to bleeding, and the application of thrombin generation tests to warfarin therapy monitoring.

Methods: Seventy eight blood samples were taken from patients on warfarin therapy for more than 3 months owing to valve replacement or atrial fibrillation. The patients' case history and PT-INR were collected and thrombin generation tests were performed in all samples.

[Studies on inherited coagulation factor VII deficiency and tissue factor abnormality in a pedigree].

Objective: To investigate the mechanism of clinical haemorrhage in an inherited coagulation factor VII (FVII) deficiency and tissue factor abnormality pedigree.

Methods: All exons, exon-intron boundaries and the 3', 5' untranslated sequences of FVII and tissue factor (TF) genes were amplified by PCR and sequenced directly. Any mutation identified by direct sequencing was confirmed by reverse sequencing.