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Objective To find the possible relationship between defects in the FA/BRCA pathway of genomic maintenance and potential pathogenesis of acute myeloid leukaemia.Methods Twenty-five AML cell lines derived from diverse subtypes of AML were screened to investigate for possible defects in FA,BRCA patllway.Results The absence of FANCN protein in two cell lines,THP-1 and M-07e were observed,which was correlated with the results of MMC-induced G2 arrest,growth inhibition and chromosomal breakage test in both cell lines.But no gene aberrance in these two cell lines by MLPA test and DNA sequencing were found.Conclusion There is a possible relationship between defects in the FA/BRCA Dathway and potentialpathogenesis of acute myeloid leukaemia.A disturbance of theFA pathwaymay represent an early event in the development of this type of leukaemia.
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<p><b>OBJECTIVE</b>To investigate the possible relationship between defects in the FA/BRCA pathway of genomic stability and potential pathogenesis of T and B cell lymphoma.</p><p><b>METHODS</b>Nineteen cell lines derived from diverse subtypes of lymphoma for possible FA pathway defects were screened.</p><p><b>RESULTS</b>No defect in FANCD2 ubiquitination was observed. However, the FANCN protein was absent in cell lines HT and Sudhl4. This absence was correlated with enhanced MMC-induced G2 arrest, growth inhibition and high chromosomal breakage rate in both cell lines. In addition, in exon-5a of FANCN gene, a mutation of c.1769 C>T, p. A590V was found in cell line HT, but not in cell line Sudhl4.</p><p><b>CONCLUSION</b>This mutation may be the reason causing the absence of the FANCN protein expression or making the protein unstable and losing its function.</p>
Subject(s)
Animals , Humans , Antibiotics, Antineoplastic , Pharmacology , BRCA2 Protein , Metabolism , Base Sequence , Cell Cycle , Cell Line, Tumor , Cell Proliferation , Chromosome Breakage , Fanconi Anemia , Metabolism , Fanconi Anemia Complementation Group D2 Protein , Metabolism , Fanconi Anemia Complementation Group N Protein , Gene Expression Regulation, Neoplastic , Genomic Instability , Lymphoma , Genetics , Pathology , Mitomycin , Pharmacology , Molecular Sequence Data , Mutation , Nuclear Proteins , Chemistry , Genetics , Metabolism , Protein Stability , Sequence Analysis, DNA , Signal Transduction , Tumor Suppressor Proteins , Chemistry , Genetics , MetabolismABSTRACT
Bone marrow cell morphology is a difficult point in laboratory diagnostics teaching.Computer-aided instruction(CAI) teaching documents were made according to the teaching outlines of laboratory diagnostics.The CAI teaching documents,which represent distinct cellular features of different types of bone marrow cells,were applied in normal and hematological diseases of bone marrow cell morphology teaching,combined with proper teaching methods.It proved to be a useful teaching style in improving teaching and learning efficiency in laboratory diagnostics.
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<p><b>OBJECTIVE</b>To screen the FANCA gene mutation and explore the FANCA protein function in Fanconi anemia (FA) patients.</p><p><b>METHODS</b>FANCA protein expression and its interaction with FANCF were analyzed using Western blot and immunoprecipitation in 3 cases of FA-A. Genomic DNA was used for MLPA analysis followed by sequencing.</p><p><b>RESULTS</b>FANCA protein was undetectable and FANCA and FANCF protein interaction was impaired in these 3 cases of FA-A. Each case of FA-A contained biallelic pathogenic mutations in FANCA gene.</p><p><b>CONCLUSIONS</b>No functional FANCA protein was found in these 3 cases of FA-A, and intragenic deletion, frame shift and splice site mutation were the major pathogenic mutations found in FANCA gene.</p>
Subject(s)
Humans , Cell Line , DNA Mutational Analysis , Fanconi Anemia , Genetics , Metabolism , Fanconi Anemia Complementation Group A Protein , Genetics , Metabolism , MutationABSTRACT
Objective To analysis the clinical characteristics and the correlative factor of kidney lesion in multiple myeloma.Methods Analysis of statistics in clinical characteristics and results of laboratory of kidney lesion were carried out in myeloma patients.Results The incidence of kidney lision was 39.1%(18/46),the most common kidney lesion was chromic renal failure.There was a significant correlation between the quantity of bone marrow plasmacyte or urine Bence-Jones protein and renal functional lesion( P
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Objective To analyze the image diagnosis and differential diagnosis of bone destruction with soft-tissue tumor in sacrum.Methods 26 cases patient proved by surgically and pathologically were retrospectively reviewed, including chordoma (n=8) , giant cell tumor (n=5), tuberculosis(n=5),metastatic cancer(n=3), sarcoma(n=2), and malignant neurofibroma, osteomyelitis, eosinophilic granuloma in one each.Results All cases image manifested as different kinds of bone destruction and soft-tissue tumor in sacrum , pelvis organ were moved.Conclusion A reliable diagnosis can be made by the shape a bone destruction , location characterization of soft-tissue tumor and the age.