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The application of single-cell gel electrophoresis to the diagnosis of fanconi anemia / 中华血液学杂志
Chinese Journal of Hematology ; (12): 690-693, 2006.
Artigo em Chinês | WPRIM | ID: wpr-328397
ABSTRACT
<p><b>OBJECTIVE</b>To explore the feasibility of single-cell gel electrophoresis (SCGE) as one of lab tests to examine DNA breakage for the diagnosis of Fanconi anemia (FA). Case Record A 4-year-and-10-month old boy presented with cryptorchism, deformities of both thumbs and esotropia of right eye. He developed thrombocytopenia and anemia when he was 3 year- and -2-month old. He was clinically diagnosed as FA.</p><p><b>METHODS AND RESULTS</b>DNA breakage of peripheral white blood cells from the patient and his parents was examined with SCGE. The percentages of cells with chromosome breakage (comet-tail positive cells) were 100%, 90% and 52% for the patient,his father and mother, respectively, while that were only 2% and 5% in two normal same-age children (P <0. 001). The micronucleus-positive lymphocytes was 6.74% in the patient, being also much higher than normal value (0.40%).</p><p><b>CONCLUSION</b>SCGE disclosed DNA breakage in the patient with FA, suggesting that it could be used as a test for determining DNA breakage of FA.</p>
Assuntos
Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Ensaio Cometa / Diagnóstico / Anemia de Fanconi Tipo de estudo: Estudo diagnóstico Limite: Criança, pré-escolar / Humanos / Masculino Idioma: Chinês Revista: Chinese Journal of Hematology Ano de publicação: 2006 Tipo de documento: Artigo

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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Ensaio Cometa / Diagnóstico / Anemia de Fanconi Tipo de estudo: Estudo diagnóstico Limite: Criança, pré-escolar / Humanos / Masculino Idioma: Chinês Revista: Chinese Journal of Hematology Ano de publicação: 2006 Tipo de documento: Artigo