RESUMEN
We report the characterization of a new gene (E4.5) that maps at chromosome band 13q14.3, a chromosomal area frequently deleted in chronic lymphocytic leukemia (CLL) and in other lymphoid malignancies. E4.5 gene encodes for a 4 kb mRNA expressed in various tissues and has an open reading frame of 531 amino acids. The predicted E4.5 protein shows strong homology with the human regulator of chromosome condensation (RCC1) protein, the principal GTP exchange factor for Ran protein. The E4.5 protein contains a BTB domain in its N-terminus, a protein-protein interaction motif. Therefore, we propose that E4.5 is a new member of the RCC1-related guanine nucleotide exchange factor (GEF) family with potent interaction with other proteins and unknown function. Until now, no tumor suppressor genes have been mapped in the 13q14.3 minimal deleted region (MDR) in patients with CLL. It has been proposed that loss of the 13q14.3 MDR may contribute to lymphoid neoplasia by altering the expression/function of genes located on 13q14.3 outside the MDR. The E4.5 is one of these genes with a potential role in the pathogenesis of CLL.
Asunto(s)
Deleción Cromosómica , Cromosomas Humanos Par 13/genética , Genes Supresores de Tumor , Factores de Intercambio de Guanina Nucleótido/genética , Leucemia Linfocítica Crónica de Células B/genética , Familia de Multigenes , Secuencias de Aminoácidos , Secuencia de Aminoácidos , Secuencia de Bases , Transformación Celular Neoplásica/genética , ADN Complementario/genética , Factores de Intercambio de Guanina Nucleótido/química , Factores de Intercambio de Guanina Nucleótido/deficiencia , Factores de Intercambio de Guanina Nucleótido/fisiología , Humanos , Datos de Secuencia Molecular , Sistemas de Lectura Abierta/genética , Estructura Terciaria de Proteína , ARN Mensajero/genética , Homología de Secuencia de AminoácidoRESUMEN
AIM: To evaluate efficacy of synthetic leukocytic interferon (SLI) in patients with severe Adamantiadi-Behçet syndrome (ABS). MATERIALS AND METHODS: The trial enrolled 18 patients (11 men and 7 women aged 25 to 43 years) with severe ABS. The duration of the disease ranged from 1 to 12 years. Subcutaneous ABS injections in a dose 5 x 10(6) U/m2 for 8 weeks followed by 3 x 10(6) for 16 weeks. The results were estimated by standard clinical and biochemical indices. RESULTS: All 18 patients responded to the treatment. After the course of treatment 13 patients were in remission for 4-52 months. The rest of the patients were given one more course of treatment.
