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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
Author: Miranda, SRP
Fonseca, SF
Figueiredo, MS
Yamamoto, M
Grotto, HZW
Saad, STO
Costa, FF
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.
Country: Brasil
Editor: Soc Brasil Genetica
Citation: Brazilian Journal Of Genetics. Soc Brasil Genetica, v. 20, n. 4, n. 745, n. 748, 1997.
Rights: aberto
Date Issue: 1997
Appears in Collections:Unicamp - Artigos e Outros Documentos

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