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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.
Article Dans Chinois | 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>
Sujets)
Texte intégral: Disponible Indice: WPRIM (Pacifique occidental) Sujet Principal: Test des comètes / Diagnostic / Anémie de Fanconi Type d'étude: Etude diagnostique Limites du sujet: Enfant d'âge préscolaire / Humains / Mâle langue: Chinois Texte intégral: Chinese Journal of Hematology Année: 2006 Type: Article

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Texte intégral: Disponible Indice: WPRIM (Pacifique occidental) Sujet Principal: Test des comètes / Diagnostic / Anémie de Fanconi Type d'étude: Etude diagnostique Limites du sujet: Enfant d'âge préscolaire / Humains / Mâle langue: Chinois Texte intégral: Chinese Journal of Hematology Année: 2006 Type: Article