[Correlation Analysis of FⅧGene Mutation and the Production of FⅧ Inhibitor with Severe Hemophilia A Patients in a Single Medical Center].

Objective: To investigate the relationship between the type of FⅧgene mutation and the development of FⅧ inhibitors in patients with severe haemophilia A (HA).

Methods: The medical records of 172 patients with severe hemophilia A from January 2009 to September 2020 were reviewed. The types of FⅧgene mutations and the production of factor Ⅷ inhibitors were collected and divided into high-risk mutation group ( intron 1 inversions, large deletions, nonsense mutations), low-risk mutation group (missense mutations, small deletions and insertions, splice site mutations) and intron 22 inversions group.

[Correlation analysis of thrombin-activatable fibrinolysis inhibitor single nucleotide polymorphism with venous thromboembolism].

This study was aimed to explore the change of single nucleotide polymorphism (SNP) of thrombin-activatable fibrinolysis inhibitor (TAFI) and its correlation of 2 sites (505a/g, 1040c/t) in its gene-coding region with venous thromboembolism (VTE). The genotype distribution of TAFI in 80 patients with VTE and 80 normal controls was detected by allele-specific PCR. The results showed that the distribution of each genotype of 505a/g polymorphism was not significantly different between the VTE and control groups (P > 0.

[1059 g/c gene polymorphism of C-reactive protein in patients with deep vein thrombosis].

This study was aimed to investigate the distribution of 1059 G/C gene polymorphism of C-reactive protein(CRP) in deep vein thrombus (DVT) and its clinical significance. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to screen 1059 G/C polymorphism in exon 2 of C-reactive protein gene in 61 cases of DVT and 60 healthy controls. The frequency of mutation was calculated.

[Significance of detection of anti-GPIIb/IIIa antibody secreting B cells and platelet-specific antibody in patients with idiopathic thrombocytopenic purpura].

Objective: To detect the frequencies of anti-GPIIb/IIIa antibody secreting B cells and platelet-specific antibody in patients with idiopathic thrombocytopenic purpura (ITP) and non-immune thrombocytopenia, and to evaluate their roles in the diagnosis of ITP and their clinical significance.

Methods: The frequencies of circulating B cells secreting anti-GPIIb/IIIa antibody and platelet-specific antibody in 58 ITP patients, 33 non-ITP patients and 31 healthy controls were tested by Enzyme-linked Immunospot Assay (ELISPOT) and modified monoclonal antibody immobilization of platelet antigens assay (MAIPA) respectively.

Results: The frequencies of circulating B cells secreting anti-GPIIb/IIIa antibody in ITP patients \[(6.

[Expression and gene polymorphisms of B cell activating factor in patients with idiopathic thrombocytopenic purpura].

Objective: To analyze the polymorphisms of B cell activating factor (BAFF) gene and the plasma levels of BAFF in patients with idiopathic thrombocytopenic purpura (ITP), and to investigate their roles in the pathogenesis of ITP.

Methods: Alleles specific polymerase chain reaction (AS-PCR) and agarose gel electrophoresis were used to identify polymorphisms -871C/T of BAFF promotor in 133 ITP patients and 117 healthy controls. The plasma levels of BAFF were assayed by ELISA.

[The clinical significance of immune-related marker detection in idiopathic thrombocytopenic purpura].

Objective: To assess the clinical significance of detecting the immune markers in idiopathic thrombocytopenic purpura (ITP).

Methods: The frequencies of circulating B cells secreting platelet-specific antibody, platelet-specific antibody, the percentage of T lymphocyte subsets, the percentage of reticulated platelet and the level of thrombopoietin in 64 ITP patients and 31 healthy controls were measured with enzyme-linked immunospot assay (ELISPOT), modified monoclonal antibody immobilization of platelet antigens assay (MAIPA), flow cytometry and sandwich enzyme-linked immunosorbent assay respectively.

Results: Compared with the controls [1.

[Correlation of inflammatory marker and coagulation factors with deep vein thrombosis].

This study was purposed to investigate the correlation of deep vein thrombosis (DVT) with C-reactive protein (CRP), fibrinogen (Fg), coagulation factor VIII (FVIII:C), coagulation factor IX (FIX:C) and to explore the effect of inflammation and coagulation as well as their interaction in DVT and its mechanism. 59 patients with DVT undergoing selective venous ultrasonography and 26 healthy individuals as controls were enrolled in this study. The plasma level of CRP was detected by immunoturbidimetry, FVIII:C, FIX:C levels were determined by a one-stage assay and fibrinogen level was measured by full-automatic biochemical apparatus.

[Significance of B cell activating factor of TNF family promoter polymorphisms in patients with immune thrombocytopenic purpura].

The study was aimed to examine the B cell activating factor promoter polymorphism of the TNF family (BAFF)-871 C/T in patients with immune thrombocytopenic purpura (ITP) and to explore its correlation with ITP and the relationship between the blood platelet count of newly diagnosed patients with ITP and genotypes of BAFF-871 C/T polymorphisms. Alleles specific polymerase chain reaction (ASP-PCR) and agarose gel electrophoresis were used to identify polymorphisms -871 C/T of BAFF promotor in 133 ITP patients and 117 healthy controls, and determine the genotype of subjects. Meantime, the frequency of genotype and alleles were analyzed.

[Gene mutation analysis of one case with von willebrand disease type 2A].

Objective of this study was to identify gene mutation involved in a patient with type 2A von Willebrand disease (vWD). The bleeding time, vWF:Ag, FVIII:C, RIPA and multimeric assay were used for phenotypic diagnosis. All of the 52 exons and the exon-intron boundaries of vWF gene were amplified by polymerase chain reaction (PCR) and direct sequencing was carried out.

[Correlation analysis of tissue factor promotor polymorphism -1208I/D and venous thromboembolism].

The study was aimed to investigate the correlation of tissue factor promotor polymorphism -1208I/D with the venous thromboembolism in patients. Tissue factor promotor polymorphism -1208 was detected by polymerase chain reaction (PCR) and DNA sequencing in 96 cases of DVT, 14 cases of PE and 59 nonthrombosis normal individuals. The results showed that the allele containing a 18-bp nucleotides insertion at -1208.

[Detection of factor IX gene mutation in patients with hemophilia B by DNA sequencing].

In order to investigate the patterns of FIX gene mutation in 3 unrelated hemophilia B (HB) patients, the activated partial thromboplastin time (APTT) and FIX activity (FIX: C) tests were adopted for phenotype diagnosis. All of the eight exons and their flank of FIX gene were amplified by polymerase chain reaction (PCR), the nucleic acid sequences were detected by dideoxymediated chain-termination method. The results indicated that as compared with normal control, the APTT value significantly increased, FIX: C value obviously decreased, PT value was normal.

[Gene diagnosis of 3 haemophilia B families].

Objective: To explore factor IX gene mutations and molecular mechanism of haemophilia B in 3 unrelated families.

Methods: The activated partial thromboplastin time (APTT) and FIX activity (FIX: C) assay were used for phenotypic diagnosis. The STR loci gene polymorphisms for genetic linkage analysis in the patients and their family members were assayed.

[Analysis of activated protein C resistance, factor V coagulation activity and gene polymorphisms in patients with venous thromboembolism].

The study was aimed to investigate the factor V coagulation activity (FV:C), and to evaluate FVgene polymorphisms and activated protein C resistance (APCR) in the patients with venous thromboembolism (VTE). 95 patients with VTE and 95 normal controls were investigated for FV gene polymorphisms. FV Leiden, FVCambridge, and FVHong Kong were detected by PCR, MnlI and BstNI digestion respectively.

[A novel mutation causes congenital factor V deficiency].

Objective: To investigate the gene defect in a hereditary coagulation factor V (FV) deficiency family.

Methods: The plasma FV actigen was measured by one-stage clotting assay. The FV antigen was assayed by Biotin-Avidin enzyme linked immunosorbent assay (BA-ELISA).