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|Type:||Artigo de periódico|
|Title:||Hb Koln [alpha(2)beta(2)98(FG5) val-met] identified by DNA analysis in a Brazilian family|
|Abstract:||Hb Koln was identified by DNA analysis in a Brazilian patient. A four-year old Brazilian female, with jaundice since birth, presented an abnormal band, between A(2) and S, in hemoglobin electrophoresis on a cellulose acetate membrane, and a band with electrophoretic migration similar to Hb C on agar gel. Thermic instability and isopropanol precipitation tests were positive. Heinz bodies were observed in the patient's peripheral blood. Sequencing of the three exons of the beta globin gene detected a transition from G to A in the first position of codon 98. This alteration does not create or abolish any known restriction site. In this case, confirmation of the mutation was accomplished by allele-specific oligonucleotide hybridization, which is a simple and fast identification method when the clinical data and hematological and electrophoretic patterns are suggestive of Hb Koln.|
|Editor:||Soc Brasil Genetica|
|Appears in Collections:||Artigos e Materiais de Revistas Científicas - Unicamp|
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