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1.
Eur J Haematol ; 91(1): 10-9, 2013 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-23560441

RESUMO

Deletions of the long arm of chromosome 6 are known to occur at relatively low frequency (3-6%) in chronic lymphocytic leukemia (CLL), and they are more frequently observed in 6q21. Few data have been reported regarding other bands on 6q involved by cytogenetic alterations in CLL. The cytogenetic study was performed in nuclei and metaphases obtained after stimulation with a combination of CpG-oligonucleotide DSP30 and interleukin-2. Four bacterial artificial chromosome (BAC) clones mapping regions in bands 6q16, 6q23, 6q25, 6q27 were used as probes for fluorescence in situ hybridization in 107 CLL cases in order to analyze the occurrence and localization of 6q aberrations. We identified 11 cases (10.2%) with 6q deletion of 107 patients studied with CLL. The trends of survival curves and the treatment-free intervals (TFI) of patients with deletion suggest a better outcome than the other cytogenetic risk groups. We observed two subgroups with 6q deletion as the sole anomaly: two cases with 6q16 deletion, and three cases with 6q25.2-27 deletion. There were differences of age, stage, and TFI between both subgroups. By using BAC probes, we observed that 6q deletion has a higher frequency in CLL and is linked with a good prognosis. In addition, it was observed that the deletion in 6q16 appears to be the most frequent and, if present as the only abnormality, it could be associated with a most widespread disease.


Assuntos
Hibridização in Situ Fluorescente , Leucemia Linfocítica Crônica de Células B/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Biópsia , Deleção Cromossômica , Mapeamento Cromossômico , Cromossomos Artificiais Bacterianos , Cromossomos Humanos Par 6/genética , Feminino , Humanos , Imunofenotipagem , Masculino , Pessoa de Meia-Idade , Oligonucleotídeos/genética , Prognóstico , Fatores de Tempo
2.
Hum Mol Genet ; 12(16): 1959-71, 2003 Aug 15.
Artigo em Inglês | MEDLINE | ID: mdl-12913067

RESUMO

Split hand-split foot malformation (SHFM) is characterized by hypoplasia/aplasia of the central digits with fusion of the remaining digits. SHFM is usually an autosomal dominant condition and at least five loci have been identified in humans. Mutation analysis of the DACTYLIN gene, suspected to be responsible for SHFM3 in chromosome 10q24, was conducted in seven SHFM patients. We screened the coding region of DACTYLIN by single-strand conformation polymorphism and sequencing, and found no point mutations. However, Southern, pulsed field gel electrophoresis and dosage analyses demonstrated a complex rearrangement associated with a approximately 0.5 Mb tandem duplication in all the patients. The distal and proximal breakpoints were within an 80 and 130 kb region, respectively. This duplicated region contained a disrupted extra copy of the DACTYLIN gene and the entire LBX1 and beta-TRCP genes, known to be involved in limb development. The possible role of these genes in the SHFM3 phenotype is discussed.


Assuntos
Anormalidades Múltiplas/genética , Aberrações Cromossômicas , Cromossomos Humanos Par 10 , Deformidades do Pé/genética , Deformidades da Mão/genética , Proteínas/genética , Linhagem Celular Transformada , Eletroforese em Gel de Campo Pulsado , Proteínas F-Box , Duplicação Gênica , Humanos , Células Híbridas , Modelos Genéticos , Linhagem , Fenótipo , Polimorfismo Conformacional de Fita Simples , Análise de Sequência de DNA
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