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1.
Journal of Experimental Hematology ; (6): 1507-1512, 2013.
Artículo en Chino | WPRIM | ID: wpr-264986

RESUMEN

This study was purposed to investigate the effect of mutation and single nucleotide polymorphism (SNP) of suppressor of cytokine signaling (SOCS) on the typical myeloproliferative neoplasms (MPN) and its mechanism. The mutation and SNP of SOCS1, SOCS2, SOCS3 genes in 100 MPN patients were detected by RT-PCR and direct sequencing. The results showed that among 100 cases there were 21 cases with A→C polymorphism in the 63th site nucleotide of the 15 SOCS3 exon (SNP library no reported), 18 cases with A→C polymorphism in the 1779th site nucleotide of the 15 SOCS3 exon, 49 cases with A→G polymorphism in the 2249th site nucleotide of the 15 SOCS3 exon (SNP library no reported), 39 cases with T→C polymorphism in the 2366th site nucleotide of the 15 SOCS3 exon (SNP library no reported), 9 cases with T→C polymorphism in the exon of 15 SOCS2 gene (SNP library no reported). SOCS3 SNP was found in patients with significantly advanced age at diagnosis, the leukocyte count and platelet level were higher than those in patients with wild type, JAK2V617 mutations was found in 87.65% SOCS3 SNP. It is concluded that the SOCS may be an important target for anticancer therapy, the single nucleotide polymorphism of SOCS may involve to pathogenesis of MPN.


Asunto(s)
Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven , Exones , Mutación , Trastornos Mieloproliferativos , Genética , Polimorfismo de Nucleótido Simple , Proteína 1 Supresora de la Señalización de Citocinas , Proteína 3 Supresora de la Señalización de Citocinas , Proteínas Supresoras de la Señalización de Citocinas , Genética
2.
Journal of Experimental Hematology ; (6): 100-102, 2012.
Artículo en Chino | WPRIM | ID: wpr-331012

RESUMEN

The aim of this study was to analyze the P53 aberrations in diffuse large B-cell lymphoma (DLBCL) and its prognostic value. Using fluorescence in situ hybridization (FISH), the P53 gene was detected in paraffin-embedded tonsil tissues from 50 cases of DLBCL, while all the peripheral blood of patients was collected for detecting P53 protein in serum by using enzyme-linked immunosorbent assay (ELISA). The relationships between P53 gene and protein expression and the prognosis of patients with DLBCL were analyzed. The results showed that 21 out of 50 cases had P53 gene deletion, serum P53 protein content was (176.25 ± 61.25) pg/ml, which was higher than that in normal controls. The Cox model likelihood ratio test found that abnormal P53 could be used as independent prognostic factor in DLBCL patients. The risk of death in patients with P53 gene deletion were more than that in patients with P53 gene normal. The patients with histology P53 gene deletion detected by FISH also had relatively high level of mutant P53 protein in serum. It is concluded that P53 aberrations in patients with DLBCL can be used as an independent prognostic factor, the early detection of P53 in DLBCL patients helps to determine their prognosis accurately.


Asunto(s)
Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios de Casos y Controles , Eliminación de Gen , Genes p53 , Linfoma de Células B Grandes Difuso , Diagnóstico , Genética , Patología , Pronóstico , Proteína p53 Supresora de Tumor , Genética
3.
Chinese Journal of Medical Genetics ; (6): 181-183, 2012.
Artículo en Chino | WPRIM | ID: wpr-295511

RESUMEN

<p><b>OBJECTIVE</b>To investigate the prognostic value of t(11; 18) (q21; q21) in gastric mucosa-associated lymphoid tissue lymphoma.</p><p><b>METHODS</b>A cohort of thirty-six gastric mucosa-associated lymphoid tissue lymphoma patients who were pathologically identify diagnosis from January 1994 to June 2004 were followed up retrospectively and studied using fluorescence in situ hybridization(FISH) technique to detect t(11; 18) (q21; q21) chromosomal translocation on preservative paraffin specimen.</p><p><b>RESULTS</b>Among thirty-six patients, fifteen (41.67%) were positive for t (11; 18) (q21; q21). All but one were followed up to March 2010, general median survival time (MST) was 87 months. The MST were 43 and 130 months for t(11; 18) positive and negative patients, respectively. The MST between these two groups was notably different (chi-square=29.57, P< 0.01).</p><p><b>CONCLUSION</b>t(11; 18) (q21; q21) is important prognostic factor for gastric mucosa-associated lymphoid tissue lymphoma.</p>


Asunto(s)
Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad , Cromosomas Humanos Par 11 , Cromosomas Humanos Par 18 , Estudios de Cohortes , Estudios de Seguimiento , Mucosa Gástrica , Patología , Linfoma de Células B de la Zona Marginal , Genética , Patología , Pronóstico , Estudios Retrospectivos , Translocación Genética
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