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Type: Artigo de periódico
Title: Hb Koln [α2β298(fg5) Val-met] Identified By Dna Analysis In A Brazilian Family
Author: Miranda S.R.P.
Fonseca S.F.
Figueiredo M.S.
Yamamoto M.
Grotto H.Z.W.
Saad S.T.O.
Costa F.F.
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 A2 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 β 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.
Rights: aberto
Identifier DOI: 
Date Issue: 1997
Appears in Collections:Unicamp - Artigos e Outros Documentos

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