| Registro completo |
| Provedor de dados: |
54
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| País: |
Brazil
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| Título: |
Hb Köln [a2b298(FG5) val-met] identified by DNA analysis in a Brazilian family
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| Autores: |
Miranda,Silvia R.P.
Fonseca,Silvana F.
Figueiredo,Maria S.
Yamamoto,Myoko
Grotto,Helena Z.W.
Saad,Sara T.O.
Costa,Fernando F.
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| Data: |
1997-12-01
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| Ano: |
1997
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| Resumo: |
Hb Köln 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 patients peripheral blood. Sequencing of the three exons of the <FONT FACE="Symbol">b</font> 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 Köln.
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| Tipo: |
Info:eu-repo/semantics/other
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| Idioma: |
Inglês
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| Identificador: |
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-84551997000400030
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| Editor: |
Sociedade Brasileira de Genética
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| Relação: |
10.1590/S0100-84551997000400030
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| Formato: |
text/html
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| Fonte: |
Brazilian Journal of Genetics v.20 n.4 1997
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| Direitos: |
info:eu-repo/semantics/openAccess
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