biostudies-arrayexpressPamela Maginiunilateral congenital transverse defect of his right upper (absence of forearm and hand) and right lower (absence of foot) limbs; a high platelet countHomo sapienshttps://www.ebi.ac.uk/biostudies/studies/E-MEXP-2214Array-Comparative Genomic Hybridization (CGH) was performed using a whole-genome microarray with a resolution of about 75 Kb on a man showing unilateral congenital transverse defect of his right upper (absence of forearm and hand) and right lower (absence of foot) limbs. He had also a high platelet count.biostudies-arrayexpressNucleic Acid Extraction - 250 microliter of blood are mixed with 20 microliter of proteinase and 20 microliter of RNase. The sample is then lysed with a specific solution for 30 minutes at 55°C and the DNA is precipitated with ethanol. After some wash steps on purifying columns, the DNA is eluted with TE buffer.<br>(Parameters: Extracted product = genomic_DNA, Amplification = none)Hybridization - The labeled DNAs are mixed with Cot-1 DNA, Blocking agent and Hybridization buffer and a preannealing reaction is carried out for 30 minutes at 37°C. Then 100 microliter of solution are hybridized on a slide, that is inserted into a hybridization oven at 65°C for 24 hours<br>(Parameters: Chamber type = Affymetrix- GeneChip Hyb Oven 640, Quantity of label target used = 6, Mass unit = Micro gram, Tiny time unit = seconds, Volume unit = Nano litre, temperature = 65)Labeling - The digested DNA is mixed with random primers, reaction buffer, dNTPs Kleenow enzyme and the specific cyanine (Cy5 for the sample and Cy5 for the reference DNA). The reaction is carried out for 2 hours at 37°C.<br>(Parameters: Amplification = none, Mass unit = Micro gram)MIAME ScoreRaw DataOrganizationAssays and DataAdditional FilesMAGE-TAB FilesArray DesignsMetabolomicsUnknownTranscriptomicsGenomicsProteomicscomparative genomic hybridization by arrayHomo sapiensAssociation of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutationPamela MaginiGraziano, Claudio; Carone, Simona; Panza, Emanuele; Marino, Flora; Magini, Pamela; Romeo, Giovanni; Pession, Andrea; Seri, MarcofalseComparative genomic hybridization of human patient reveals association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutationArray-Comparative Genomic Hybridization (CGH) was performed using a whole-genome microarray with a resolution of about 75 Kb on a man showing unilateral congenital transverse defect of his right upper (absence of forearm and hand) and right lower (absence of foot) limbs. He had also a high platelet count.2009-06-17T00:00:00Z2022-11-21T15:18:14.39Z2021-10-05T18:56:02ZE-MEXP-2214EFO_0000749