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Rev Inst Med Trop Sao Paulo ; 38(3): 201-5, 1996.
Artigo em Inglês | MEDLINE | ID: mdl-9163985

RESUMO

The studied family showed the presence of four different types of hemoglobin. The family member who gave rise to this study (=propositus) presented Hb C and the hybrid Hb CG-phila. The propositus has three children, all of which have Hb AC; none of the family members showed any clinical symptoms. The investigation of the hemoglobin arose from the finding of target red cells in a blood test done during the pre-operatory examination for lower limb varicose vein stripping. The hybrid Hb CG-phila is due to two gene pairs, each of which with individual expression, determining the synthesis and the particular type subunits. The hybrid Hb CG-phila is formed by the combination velocity of the subunits alpha 2G-phila beta 2; therefore the proportion of the hybrid Hb CG-phila is lower than Hb G-phila and Hb C. The identification and molecular characterization of Hb G-phila showed the position alpha 2(68) Asn-->Lys beta 2 and Hb C showed alpha 2 beta 2(6) Glu-->Lys.


Assuntos
População Negra/genética , Hemoglobinas/genética , Mutação , Adulto , Criança , Feminino , Hemoglobinas/classificação , Hemoglobinas Anormais/genética , Humanos , Masculino , Linhagem
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