RESUMO
To explore the expression of livin gene in acute non-lymphocytic leukemia (ANLL) cells and its clinical significance, the mRNA level of livin gene in 46 ANLL adult patients were measured by using reverse transcription polymerase chain reaction (RT-PCR). Other 10 healthy adults were selected as normal controls (NC), HL-60 cell line was employed as positive control. The results showed that the mRNA level of livin gene in ANLL patients was significantly higher than that in NC, while it decreased in patients with complete remission (CR). In relapsed patients, the level of livin mRNA increased again. In ANLL patients, the CR rate of patients with livin positive was lower than that of patients with livin negative (p<0.05). It is concluded that overexpression of livin gene may play a synergic role in the pathogenesis of ANLL and associates with CR rate in ANLL. It seems that high expression of livin gene may be used as a marker of poor prognosis in acute non-lymphocytic leukemia.
Assuntos
Adolescente , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem , Proteínas Adaptadoras de Transdução de Sinal , Genética , Metabolismo , Biomarcadores Tumorais , Genética , Metabolismo , Proteínas Inibidoras de Apoptose , Genética , Metabolismo , Leucemia Mieloide Aguda , Genética , Proteínas de Neoplasias , Genética , Metabolismo , Prognóstico , RNA Mensageiro , Genética , MetabolismoRESUMO
<p><b>OBJECTIVE</b>To identify the mutation of spondyloepiphyseal dysplasia tarda (SEDL) gene in a large Chinese family with X-linked spondyloepiphyseal dysplasia tarda and to make a discussion on the pathogenesis of SEDL at the molecular level.</p><p><b>METHODS</b>In two patients, four exons comprising the SEDL open reading frame as well as their exon/intron boundaries were analyzed by bi-directional direct sequencing of PCR products. The sequencing results were compared against the normal sequences in GenBank to find the mutation. Then the mutation was identified in other members of the family.</p><p><b>RESULTS</b>A nucleotide substitution of the splice acceptor in SEDL intron 2, IVS2 -2A-->C,was detected in two affected individuals (IV(15) V(3)) in the Chinese family with SEDL, but no sequence change occurring on exons 3-6 was detected. The transversion was also identified in four heterozygous carriers. The mutation was not found in two unaffected male individuals and fifteen normal controls. Furthermore, four potential carriers were identified in the family.</p><p><b>CONCLUSION</b>The mutation IVS2 -2A-->C of SEDL gene was firstly determined in the world. The change of the splice acceptor in SEDL intron 2 may cause skipping of exon 3 which is responsible for the disease. Molecular diagnosis can be made by detecting the mutation.</p>