Assuntos
Eosinofilia/complicações , Eosinofilia/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/complicações , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Biópsia , Medula Óssea/metabolismo , Células da Medula Óssea/metabolismo , Criança , Aberrações Cromossômicas , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , MasculinoRESUMO
Multicolor fluorescence in situ hybridization is a technology that has vastly expanded the diagnostic repertoire of the clinical cytogenetics laboratory. The limitations of conventional chromosome banding analysis can often be overcome by the high sensitivity and specificity of multicolor fluorescence in situ hybridization tests. This article reviews the latest multicolor fluorescence in situ hybridization tests (including multiplex fluorescence in situ hybridization, spectral karyotyping, cross-species color banding, and comparative genomic hybridization) that are currently limited to a few select clinical cytogenetic laboratories, but may soon have more dominant roles in clinical cytogenetic practice.
Assuntos
Coloração Cromossômica , Hibridização in Situ Fluorescente/métodos , Animais , Bandeamento Cromossômico , Deleção Cromossômica , Humanos , CariotipagemAssuntos
Aberrações Cromossômicas/diagnóstico , Deleção Cromossômica , Cromossomos Humanos Par 2/genética , Cromossomos Humanos Par 9/genética , Trissomia/genética , Adulto , Amostra da Vilosidade Coriônica , Aberrações Cromossômicas/genética , Bandeamento Cromossômico , Transtornos Cromossômicos , Coloração Cromossômica , Feminino , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Linfangioma Cístico/diagnóstico por imagem , Masculino , Gravidez , Ultrassonografia Pré-NatalRESUMO
SF-1, a nuclear receptor that regulates gene expression of the cytochrome P450 steroid hydroxylases, and ELP, an embryonal protein that suppresses expression of the Moloney murine leukemia virus LTR, are isoforms transcribed from the same gene by alternative promoter usage and splicing. This gene is the mammalian homolog of the Drosophila fushi-tarazu factor 1 (FTZ-F1) gene. We have mapped the mouse gene Ftzf1 to the proximal quarter of Chr 2 by a linkage analysis using interspecific backcross mice, and its human homolog FTZ1 to Chr 9q33 by fluorescence in situ hybridization. The mouse and human genes are located in the homologous regions of mouse Chr 2 and human Chr 9, respectively.