Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/68613
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
Rights: aberto
Date Issue: 1997
Appears in Collections:Artigos e Materiais de Revistas Científicas - Unicamp

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