Navegando por Autor "ZAGO, Marco Antonio"

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Acesso aberto (Open Access)
Heterogeneous ethnic distribution of the factor V leiden mutation
(1999-06) FRANCO, Rendrik França; ELION, Jacques; SANTOS, Sidney Emanuel Batista dos; ARAÚJO, Amélia Goes de; TAVELLA, Marli H.; ZAGO, Marco Antonio
Inherited resistance to activated protein C caused by the factor V Leiden (FVL) mutation is the most common genetic cause of venous thrombosis yet described, being found in 20-60% of patients with venous thrombophilia. A relationship between the FVL mutation and an increased predisposition to arterial thrombosis in young women was recently reported. We assessed the prevalence of the FVL mutation in 440 individuals (880 chromosomes) belonging to four different ethnic groups: Caucasians, African Blacks, Asians and Amerindians. PCR amplification followed by MnlI digestion was employed to define the genotype. The FVL mutation was found in a heterozygous state in four out of 152 Whites (2.6%), one out of 151 Amerindians (0.6%), and was absent among 97 African Blacks and 40 Asians. Our results confirm that FVL has a heterogeneous distribution in different human populations, a fact that may contribute to geographic and ethnic differences in the prevalence of thrombotic diseases. In addition, these data may be helpful in decisions regarding the usefulness of screening for the FVL mutation in subjects at risk for thrombosis.
Acesso aberto (Open Access)
Origin of the hemoglobin S gene in a northern Brazilian population: the combined effects of slave trade and internal migrations
(1998-12) SOUSA, Gabriella Pante de; RIBEIRO, Rita de Cassia Mousinho; SANTOS, Eduardo José Melo dos; ZAGO, Marco Antonio; GUERREIRO, João Farias
We analyzed DNA polymorphisms in the b-globin gene cluster of 30 sickle cell anemia patients from Belém, the capital city of the State of Pará, in order to investigate the origin of the bS mutation. Sixty-seven percent of the bS chromosomes were Bantu type, 30% were Benin type, and 3% were Senegal type. The origin of the bS mutation in this population, estimated on the basis of bS-linked haplotypes, contradicts the historical records of direct slave trade from Africa to the northern region of Brazil. Historical records indicate a lower percentage of people from Benin. These discrepancies are probably due to domestic slave trade and later internal migrations, mainly from northeastern to northern regions. Haplotype distribution in Belém did not differ significantly from that observed in other Brazilian regions, although historical records indicate that most slaves from Atlantic West Africa, where the Senegal haplotype is prevalent, were destined for the northern region, whereas the northeast (Bahia, Pernambuco and Maranhão) was heavily supplied with slaves from Central West Africa, where the Benin haplotype predominates.