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E-GEOD-7847 - Genotyping of human thalassemia patients reveals that the evolution of human beta-thalassemia major from minor is associated with paternal uniparental isodisomy of chromosome 11p15

Released on 15 June 2008, last updated on 12 October 2011
Homo sapiens
Samples (10)
Arrays (2)
Protocols (4)
β-thalassemia major can be caused by homozygous mutations of the HBB gene, most of the cases are inherited from parents who both have β-thalassemia minor. Herein, we show that a mosaic paternal uniparental isodisomy of chromosome 11p14.3-15.5 is associated with β-thalassemia major in a patient with β-thalassemia minor-that evolved to β-thalassemia major. From this case, we suggest that analysis of HBB gene for non-hematopoietic tissues should be performed in late-onset β-thalassemia major patients. Experiment Overall Design: This study is to evaluate the cause of delay-onset β-thalassemia major in our patient. Patients peripheral blood, hair follicle, and oral mucosa, and her parents pripheral blood samples were analyzed.
Experiment types
genotyping by array, unknown experiment type
Investigation descriptionE-GEOD-7847.idf.txt
Sample and data relationshipE-GEOD-7847.sdrf.txt
Raw data (1)
Processed data (1)
Array designsA-AFFY-69.adf.txt, A-AFFY-70.adf.txt
R ExpressionSetE-GEOD-7847.eSet.r