Detection of promoter and 3′ UTR mutation in A20 gene of a case with T cell lymphoma cell leukemia / 中华血液学杂志

Objective@#To clarify the characteristics of the A20 regulatory changes by analyzing mutations in the non-coding region of the A20 gene in patients with T-cell lymphoma leukemia (T-LCL) .@*Methods@#PCR and nucleotide sequence analysis were used to detect mutations in the non-coding region of the A20 gene, and DNA samples from PBMCs of 52 cases of T-LCL and 99 healthy controls.@*Results@#A missense mutation (c.-672T>G) was detected in the A20 gene promoter from one T-LCL patient, which has been registered as a SNP (rs139054966) in gene bank. Meanwhile, a new mutation was detected in the 3′ UTR mRNA (3916 (C>G) ) . These two mutations were absent in other T-LCL samples and controls.@*Conclusion@#The rs139054966 (c.-672T>G) and 3916 (C>G) mutations in the A20 gene were detected in T-LCL patients for the first time. There was also rs139054966 located on the binding region of the transcription factor P53, and its significance remained to be further clarified.

Clonal expansion T cells identified in acute monoblastic leukemia by CDR3 size analysis of TCR V beta repertoire using RT-PCR and genescan / 中华医学杂志(英文版)

<p><b>OBJECTIVE</b>To investigate the distribution and clonality of T cell receptor (TCR) V beta repertoire in patients with acute monoblastic leukemia (AML-M5).</p><p><b>METHODS</b>Expression of the TCR V beta repertoire was analyzed using reverse transcription-polymerase chain reaction (RT-PCR), which amplified the complementarity determining region 3 of 24 TCR V beta genes in peripheral blood from 9 cases with acute myclogenous leukemia subtype 5 or acute monoblastic leukemia (AML-M5). PCR products were further studied by genescan analysis to identify T cell clonality.</p><p><b>RESULTS</b>Expression of 1-10 V beta subfamilies was found in samples from 9 patients. Genescan analysis showed that some V beta subfamily products from 8 of 9 cases contained an oligoclonal peak. Oligoclonal T cells of the V beta 2 subfamily could be found in 6 patients with AML-M5.</p><p><b>CONCLUSIONS</b>T cell clonality expansion was found in AML-M5 cases and were tendentious in the V beta 2 subfamily, suggesting a the specific immune response for leukemia cell (M5) associated antigen and may display antileukemia activity.</p>

Study on Methylation of p15(INK4B) Gene in Acute Myeloid Leukemia and Chronic Myeloid Leukemia / 中国实验血液学杂志

In order to explore the role of p15(INK4B) gene with highly methylated CpG island in the pathogenesis of leukemia, the expression levels of p15(INK4B) gene was detected in patients with AML and CML. Methylation-specific PCR (MSP) assay was employed in the experiments. The methylation incidence was 83.9% (26/31) in AML and 0% (0/28) in CML. The results showed that methylation of p15(INK4B) gene was the one of the major ways for inactivation of the gene, and the methylation could be appeared in clinical development of the disease and patients condition worsened. Methylation of p15(INK4B) did not occur and its function probably is normal in CML.

Detection of High Methylation of p15(INK4B) and p16(INK4A) Genes in Multiple Myeloma / 中国实验血液学杂志

To study the action, characteristics and expression of high methylation of p15(INK4B) and p16(INK4A) genes in multiple myeloma (MM), the sensitive methylation specific PCR method was employed to detect the hypermethylation of p15(INK4B) and p16(INK4A) in 24 patients with MM. Results showed that the methylation incidence of p15(INK4B) and p16(INK4A) genes were 70.8% (17/24) and 58.3% (14/24) in the MM patients, with the products of 148 bp and 150 bp fragments, respectively. The methylation of p15(INK4B) and p16(INK4A) genes were simultaneously happened in MM patients of plasmocytoma type with two cases at II phase and two cases at III phase. The simultaneous non-methylation of p15(INK4B) and p16(INK4A) genes were founded in five cases of MM patients, all of the tumor cells were of small plasmocyte type with mature differention. Conclusion suggested that there were high incidence of methylation of p15(INK4B) and p16(INK4A) genes in patients with MM. Hypermethylation can be detected in the early stage of disease, which was associated with its progress. It indicated a bad prognosis when methylation happended simultaneously in the two genes. Methylation of p15(INK4B) and p16(INK4A) genes may be related to the pathogeny of MM.

The Feature of Skewing Distribution of TCR Vbeta T Cells from Peripheral Blood and Bone Marrow in Patients with AML-M(5) / 中国实验血液学杂志

The TCR Vbeta 24 subfamily genes were amplified in peripheral blood and bone marrow mononuclear cells from 5 cases with acute monocytic leukemia (AML-M(5)) using RT-PCR, to observe the distribution of TCR Vbeta subfamilies. The results indicated that 1 - 19 Vbeta subfamily T cells could be identified in different samples from AML-M(5) cases. The variation of distribution of TCR Vbeta subfamily T cells could be found in different individual samples. The results provided the feature of cell immune function change in skewed distribution of TCR Vbeta subfamily T cells from peripheral blood and bone marrow of patients with AML-M(5).