Human leukocyte antigen (HLA) is the most polymorphic genetic system found in human genome. The polymorphisms of different HLA genes and haplotypes in different ethnic and geographic populations are of high importance for investigation of their population genetic characteristics and searching for HLA matched unrelated hematopoietic stem cell transplantation donors, as well as in disease association studies. The HLA molecular genetic principals and the progress of HLA population investigation were reviewed, as well as the methods applied in the field.
Alleles ; Genetics, Population ; methods ; HLA Antigens ; genetics ; Haplotypes ; Humans ; Linkage Disequilibrium

Mutations in p53 signal pathway are found in nearly all types of cancers, indicating its close relationship with human malignant tumors. Wide type p53 is a potent tumor suppressor, whose biological effects are largely due to its function as a transcriptional regulator. MicroRNAs (miRNAs) is an important class of noncoding regulatory RNA molecules, with profound impact on a wide array of biological processes, regulating both messenger RNA (mRNA) translation and decay by the combination of target mRNA. The latest studies found that miRNAs are important molecules during the modulation of protein expression by activation of p53. The miRNA biosynthesis, function and the research progress in p53 gene signal pathway are reviewed.
Gene Expression Regulation ; Genes, p53 ; Humans ; MicroRNAs ; genetics ; Signal Transduction

Octapeptin has strong antibacterial activity against Gram-negative bacteria such as Escherichia coli, Klebsiella pneumoniae and Acinetobacter baumannii, while it also has activity against some Gram-positive bacteria. This study used natural octapeptin A3 and B3 as lead compounds for structural modification. Twenty-one peptide derivatives (including A3 and B3) containing eight amino acid residues were prepared by solid-phase synthesis, and evaluated for antibacterial activity and renal cytotoxicity. Among them, three compounds 6, 7 and 17 exhibited broad-spectrum antibacterial activity and significantly enhanced the activity for Gram-positive bacteria while maintaining the activity of Gram-negative bacteria. Several compounds improved the activity for Pseudomonas aeruginosa. Compound 7 was active against all test strains and had relatively low renal cytotoxicity. The results provide a basis for the further development of novel polypeptide antibiotics.

OBJECTIVETo explore the effect of CpG-oligodeoxynucleotides (ODN) in chromosome study of chronic lymphocytic leukemia (CLL).

METHODSBlood or bone marrow cells of 70 CLL patients were cultured for 72 h with PHA, CpG-ODN and CpG-ODN combined with IL-2, respectively. Routine karyotype analysis with R banding technique and interphase fluorescence in situ hybridization (FISH) were performed.

RESULTSThe metaphase number>or=20 was considered as successful stimulation, which in PHA, CpG-ODN and CpG-ODN combined IL-2 groups were 90.0%, 68.6% and 68.6%, respectively, and the detection rates of chromosome aberrations were 3.2%, 43.6% and 43.6%, respectively. The aberrations rates detected by interphase FISH with a panel of probes was 64.3%.

CONCLUSIONCpG-ODN DSP30 can effectively raise the detection rate of chromosome aberrations in CLL patients.

Adult ; Aged ; Aged, 80 and over ; Chromosome Aberrations ; Chromosome Banding ; Female ; Humans ; Karyotyping ; Leukemia, Lymphocytic, Chronic, B-Cell ; genetics ; pathology ; Male ; Middle Aged ; Oligonucleotides ; pharmacology ; Tumor Cells, Cultured

To investigate the frequency of derivative chromosome 9 [der (9)] deletions in patients with chronic myelogenous leukemia (CML), karyotype analysis in 138 patients with CML was performed with R-banding technique, and dual fusion fluorescence in situ hybridization (FISH) was used to detect der (9) deletion. The results showed that among 138 cases, 126 cases were Ph positive (91.3%) from which 122 cases were typical Ph translocation, 12 cases were Ph negative (8.7%). FISH detection revealed 23 with der (9) deletions out of 138 cases (16.7%), 20 out of 122 cases with typical Ph translocation showed typical Ph translocation (16.4%) and 3 out of 4 cases with variant Ph translocation had variant Ph translocation (75%). 20 cases were in chronic phase (CP) (17.2%), 3 cases were in blast crisis (BC) (17.6%), there was no significant difference in the frequency of the der (9) deletions between the cases in CP and in BC (p < 0.05). It is concluded that incidence of der (9) partial deletions in CML patients is 16.7%, FISH can effectively detect the der (9) deletions, and there is no correlation of der (9) deletion frequency between cases in different phases of CML.
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Chromosome Deletion ; Chromosomes, Human, Pair 9 ; Female ; Humans ; In Situ Hybridization, Fluorescence ; methods ; Karyotyping ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive ; diagnosis ; genetics ; Male ; Middle Aged ; Sequence Deletion ; Young Adult

OBJECTIVETo report a case of acute promyelocytic leukemia (APL) with variant t(5;17)(q35;q21) and to explore its laboratory and clinical features.

METHODSConventional cytogenetics (CC) was used for karyotyping. Fluorescence in situ hybridization (FISH) and multiplex fluorescence in situ hybridization (M-FISH) were also performed to identify the chromosomal aberrations.

RESULTSThe karyotype of the patient was 47, XY, t(5;17), +22. FISH analysis showed PML-RAR aleph negative but 77% cells had a rearrangement or duplication of the RAR aleph gene. BCR-ABL was negative but 74% cells had abnormality of chromosome 22. M-FISH confirmed the abnormalities are of chromosomes 5 and 17 rearrangement and trisomy 22.

CONCLUSIONVariant t(5;17) giving rise to the fusion gene of NPM-RAR aleph rarely occurs in APL patients. No Auer rods were identified by morphological study. It usually contains some extra chromosomal aberrations. It is sensitive to all-trans retinoic acid but has a high risk of relapse. If it goes with diffuse intravascular coagulation or high count of WBC, it usually indicates a poor prognosis.

Adolescent ; Adult ; Aged ; Child ; Child, Preschool ; Chromosomes, Human, Pair 17 ; Chromosomes, Human, Pair 22 ; Chromosomes, Human, Pair 5 ; Female ; Gene Rearrangement ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Leukemia, Promyelocytic, Acute ; genetics ; Male ; Middle Aged ; Oncogene Proteins, Fusion ; genetics ; Translocation, Genetic ; Trisomy ; Young Adult

OBJECTIVETo evaluate the clinical significance of the application of fluorescence in situ hybridization (FISH) in detecting chronic myeloid leukemia (CML).

METHODSChromosome preparation was made by using 24-hour culture. FISH technique using dual color dual fusion (DC-DF) BCR/ABL probe was performed in all 158 cases and R-banding was also employed for karyotyping in some patients.

RESULTSAmong the 158 cases, 98 cases were Ph positive, of which 69 cases (70.4%) were typical FISH pattern (1R1G2F), the other 29 cases (29.6%) showed 12 different types of atypical FISH pattern. The most frequent atypical patterns found were 1R1G1F in 7 cases (7.1%), 2R1G1F in 5 cases (5.1%), 1R1G2F and 1R1G3F in 4 cases (4.1%), 2R2G1F in 3 cases (3.1%). Karyotype analysis on 18 CML cases with atypical FISH patterns demonstrated that the atypical FISH patterns were due to variant translocation in 3 cases; the additional third signal was because of a supernumerary Ph chromosome. The karyotyping results did not conform to FISH results in four cases suggesting the conceivable mistakes in karyotyping. The 1R1G1F signal pattern seen in 3 cases with classical t(9;22) resulted from the deletion of derivative chromosome 9. The 1R1G2F signal pattern detected in 40% to 64% of interphase cells of 3 cases without Ph chromosome by conventional cytogenetic analysis suggested a submicroscopic translocation. Three cases treated with Glivec or bone marrow transplantation showed normal karyotypes with a small amount of BCR/ABL positive cells by FISH detection.

CONCLUSIONFISH technique is of great value for the diagnosis of CML and confirmation of variant translocation, occult Ph translocation, derivative chromosome 9 deletion, therapeutic effect of interferon and Glivec as well as detection of minimal residual disease after bone marrow transplantation.

Adolescent ; Adult ; Aged ; Aged, 80 and over ; Biomarkers, Tumor ; analysis ; Chromosome Banding ; Chromosome Deletion ; Chromosomes, Human, Pair 22 ; Chromosomes, Human, Pair 9 ; Female ; Fusion Proteins, bcr-abl ; Gene Deletion ; Humans ; In Situ Hybridization, Fluorescence ; methods ; Karyotyping ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive ; diagnosis ; genetics ; Male ; Middle Aged ; Translocation, Genetic ; Young Adult

OBJECTIVETo investigate the incidence of Philadelphia chromosome (Ph) in adult B-lineage acute lymphoblastic leukemia (B-ALL).

METHODSOne hundred and twelve adult patients with previously untreated B-ALL were prospectively investigated by interphase dual-color dual-fusion fluorescence in situ hybridization (DD-FISH) with two-color break apart probe BCR-ABL and the results were compared with that of conventional cytogenetics (CC).

RESULTSThe incidence of Ph chromosome was 17.98% (16/89) and 31.25% (35/112) by CC and DD-FISH, respectively. The mean positive rate of Ph+cells by FISH was 66.23% (ranging 18.5%-99%). Of the 35 Ph+ALL patients by FISH, 25 were successfully karyotyped by CC which included 5 normal karyotypes, 20 abnormal karyotypes including 16 Ph chromosome and 13 complex abnormalities.

CONCLUSIONThe incidence of Ph chromosome was 31.25% in adult with B-ALL. DD-FISH with BCR-ABL probe provides a powerful technique for the diagnosis of Ph+B-ALL. It is an important supplement to the CC analysis. DD-FISH technique should be used as a routine method for the diagnosis for adult acute B-ALL.

Adolescent ; Adult ; Aged ; B-Lymphocytes ; metabolism ; pathology ; Chromosome Aberrations ; Color ; Female ; Humans ; In Situ Hybridization, Fluorescence ; methods ; Interphase ; Karyotyping ; Male ; Middle Aged ; Philadelphia Chromosome ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; genetics ; pathology

To investigate the clinical, cellular morphology, immunophenotype, and cytogenetic characteristics of acute myeloid leukemia (AML) which are very similar to the morphological characteristics of prolymphocytic leukemia (PLL), the morphological features of bone marrow cells from patient were observed by light microscope, the immunophenotypes were detected by flow cytometry, the karyotypes were analyzed by conventional cytogenetic method, the hybridization signals were determined by fluorescence in situ hybridization. The results indicated that the clinical features were in accordance with acute leukemia and the immunophenotyping results showed malignant cells originated from myeloid lineage, while the cytomorphology analysis showed that the blastic cells were more like the lymphoid lineage. Trisomy 8 was found in the patient by cytogenetic study, the patient did not show good response to chemotherapy. In conclusion, acute leukemia has high heterogenicity, which could be defined as AML, but more like lymphocytic origination by morphological study. Immunophenotyping analysis could contribute to the final diagnosis of malignant cells.
Adult ; Bone Marrow Examination ; Cytogenetics ; Humans ; Immunophenotyping ; Leukemia, Myeloid, Acute ; immunology ; pathology ; Leukemia, Prolymphocytic ; immunology ; pathology ; Male

This study was aimed to explore the prognostic significance of telomere length in patients with chronic lymphocytic leukemia (CLL) and to analyze relation of telomere length with Binet stage, IgVH mutation status, CD38, ZAP-70 expression as well as other clinical features. 35 CLL patients who contained 80% or more tumor cells in the peripheral blood or bone marrow samples were selected as objects studied, while 13 healthy donors were served as normal controls. The telomere relative length was detected by using a real-time fluorescent quantitative polymerase chain reaction method (qPCR); the expression of CD38 and ZAP-70 protein were detected by flow cytometry, the IgVH mutation was detected by multiplex PCR. The results showed that the mean telomere relative length in CLL patients and normal controls were 0.384 and 0.443 respectively, but the difference between them was not significant (p > 0.05). The telomere length was significantly correlated with Binet stages and IgVH mutation status. Patients in Binet stage B and C showed significantly shorter telomeres than those in Binet stage A (p = 0.001). Mean telomere relative lengths in patients without IgVH mutation were shorter than those in patients with IgVH mutation (p = 0.015). No relation of telomere length with sex, age, ZAP-70 protein and CD38 were found (p > 0.05). It is concluded that telomere length may have a prognostic significance for CLL patients. Combining telomere length and IgVH mutation status may achieve a better prognostic subclassification for CLL patients.
ADP-ribosyl Cyclase 1 ; metabolism ; Adult ; Aged ; Aged, 80 and over ; Case-Control Studies ; Female ; Humans ; Leukemia, Lymphocytic, Chronic, B-Cell ; genetics ; metabolism ; Male ; Middle Aged ; Mutation ; Prognosis ; Telomere ; chemistry ; genetics ; metabolism ; ZAP-70 Protein-Tyrosine Kinase ; metabolism