[The Correlation of Minimal Residual Disease with Prognosis in TCF3-PBX1 Acute Lymphoblastic Leukemia in Children].

Objective: To investigate the consistency between FCM and PCR on the detecting of MRD in TCF3-PBX1 ALL, and to investigate the prognosis value of these 2 methods.

Methods: 55 cases of paediatric TCF3-PBX1 ALL patients from April 2008 to April 2015 were enrolled and analyzed. The FCM and PCR was used to detect the MRD in 239 bone marrow samples of 55 patients.

[Diagnostic Significance of BIOMED-2 Standardized Gene Rearran-gement System in Patients with Non-Hodgkin's Lymphoma].

Objective: To detect the immunoglobulin(Ig) and T cell receptor(TCR) gene rearrangement in bone marrow of non-Hodgkin's lymphoma(NHL) patients by using BIOMED-2 standardized system, and to explore the potential clinical significance of Ig/TCR gene rearrangement.

Methods: DNA was extracted in bone marrow and Formalin-fixed and Paraffin-embedded(FFPE) samples of NHL patients, the Ig/TCR gene rearrangements were analyzed by using BIOMED-2 multiple primers system and multiplex PCR assay.

Results: Among 235 T-NHL cases, 71.

[Application of Combined Detection of Fusion Gene and BIOMED-2 Standardized Ig Gene Rearrangement System in Childhood B-cell Acute Lymphoblastic Leukemia].

Objective: To explore the application of combined detection of fusion gene and BIOMED-2 standardized immunoglobulin (Ig) gene rearrangement system in diagnosis and treatment of children with acute lymphoblastic leukemia (ALL).

Methods: Multiplex-PCR amplifications and RQ-PCR of RNA/DNA were performed using ALL fusion gene detection kit and BIOMED-2 primer. The Ig gene rearrangements were analyzed by using PCR fragment analysis system.

Long-term outcomes of imatinib in patients with FIP1L1/ PDGFRA associated chronic eosinophilic leukemia: experience of a single center in China.

Background: The FIP1L1/PDGFRA (F/P) fusion gene is the most common clonal genetic abnormality of chronic eosinophilic leukemia (CEL). Tyrosine kinase inhibitors (TKI), such as imatinib, have been demonstrated to be effective therapies for F/P mutated disease. The aim of this study was to analyze the treatment response and long term prognosis in patients with F/P mutated CEL.

[CEBPA gene mutation analysis in acute myeloid leukemia].

Objective: To investigate the incidence, molecular features and clinical significance of CCAAT/enhancer binding protein alpha (CEBPA) gene mutation in patients with acute myeloid leukemia (AML).

Methods: Mutation analysis of the entire coding region of CEBPA gene in 206 de novo AML patients was performed by using polymerase chain reaction (PCR) followed by sequence analysis and fragment length analysis.

Results: Of 206 AML patients, 31 (15%) had CEBPA gene mutations, including 23 with double mutations (duCEBPA) and 8 with single mutation (siCEBPA).

[JAK2 exon 12 mutations in patients with Philadelphia (Ph) chromosome-negative myeloproliferative neoplasms].

Objective: To investigate JAK2 exon 12 mutations in patients with Philadelphia (Ph) chromosome-negative myeloproliferative neoplasms (MPN) and the clinical characteristics of patients with JAK2 exon 12 mutants.

Methods: Allele-specific PCR (AS-PCR) was applied to identify JAK2 V617F mutation. Genomic DNA corresponding to exon 12 of JAK2 gene and epigenetic regulator gene (TET2, ASXL1, EZH2) were amplified by polymerase chain reaction (PCR).

[Characteristics of cytogenetics and molecular biology in patients with eosinophilia].

The aim of study is to explore the characteristics of cytogenetics and molecular biology in patients with eosinophilia. Bone marrow samples from 79 cases of eosinophilia (AEoC ≥ 1.5×10(9)/L) were detected for PDGFRA/B and FGFR1 gene rearrangement by fluorescence in situ hybridization and reverse transcription polymerase chain reaction (RT-PCR).

[Relationship between RAD51-G135C/XRCC3-C241T polymorphisms and development of acute myeloid leukemia with recurrent chromosome translocation].

Objective: To investigate the relationship between DNA homologous recombination (HR) repair genes RAD51-G135C/XRCC3-C241T polymorphisms and development of acute myeloid leukemia (AML) with recurrent chromosome translocation.

Methods: Genomic DNA was extracted from bone marrow cells of 625 de novo AML patients and peripheral blood cells of 806 patient family members and 704 unrelated volunteers. Genotypes of RAD51-G135C and XRCC3-C241T were analyzed by PCR-RFLP.

[Polymorphisms of drug-metabolizing enzymes genes in a Han Chinese population].

Objective: To survey the frequencies and characteristics of polymorphism of seven genes coding drug-metabolizing enzymes in a Han Chinese population.

Methods: Genomic DNA was extracted from peripheral blood in 1382 unrelated Han Chinese volunteers. Genotypes of CYP450, NQO1, MPO, MTHFR, NAT2, TPMT*3B(G460A) and TPMT*3C(A719G) were analyzed by PCR-RFLP.

[Relation of HLA-DRB1*15 with pathogenesis in 162 childhood cases of acute lymphoblastic leukemia].

To unravel the relation of HLA-DRB1*15 with childhood acute lymphoblastic leukemia (ALL), 162 childhood patients with ALL were selected for this investigation. 1 000 normal umbilical cord blood samples were used as control.HLA-DRB1*15 and HLA-DRB5* were typed by polymerase chain reaction (PCR) analysis.

[Study on HFE gene mutations in patients with myelodysplastic syndromes and aplastic anemia].

Objective: To detect the incidence of the HFE gene C282Y and H63D mutations in patients with myelodysplastic syndromes (MDS) and aplastic anemia (AA), and analyze the relationship of these mutations with iron metabolism, and organs impairment from iron overload.

Methods: The incidence of the C282Y and H63D mutations in 271 MDS, 402 AA patients and 1615 normal subjects was measured by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) combining with DNA sequencing. Iron metabolism parameters and iron overload indices were retrospectively compared between HFE gene mutation and unmutation groups in MDS and AA patients with no transfusion history.