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DNA tests probe the genomic ancestry of Brazilians BJMBR
Pena,S.D.J.; Bastos-Rodrigues,L.; Pimenta,J.R.; Bydlowski,S.P..
We review studies from our laboratories using different molecular tools to characterize the ancestry of Brazilians in reference to their Amerindian, European and African roots. Initially we used uniparental DNA markers to investigate the contribution of distinct Y chromosome and mitochondrial DNA lineages to present-day populations. High levels of genetic admixture and strong directional mating between European males and Amerindian and African females were unraveled. We next analyzed different types of biparental autosomal polymorphisms. Especially useful was a set of 40 insertion-deletion polymorphisms (indels) that when studied worldwide proved exquisitely sensitive in discriminating between Amerindians, Europeans and Sub-Saharan Africans. When applied...
Tipo: Info:eu-repo/semantics/article Palavras-chave: DNA tests; Insertion-deletion polymorphisms; Ancestry; Human diversity; Brazilians.
Ano: 2009 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2009001000001
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Utilization of microsatellites for the analysis of genomic alterations in colorectal cancers in Brazil BJMBR
Fuzikawa,A.K.; Haddad,L.A.; da-Cunha-Melo,J.R.; Brasileiro-Filho,G.; Pena,S.D.J..
Two different pathogenetic mechanisms are proposed for colorectal cancers. One, the so-called "classic pathway", is the most common and depends on multiple additive mutational events (germline and/or somatic) in tumor suppressor genes and oncogenes, frequently involving chromosomal deletions in key genomic regions. Methodologically this pathway is recognizable by the phenomenon of loss of heterozygosity. On the other hand, the "mutator pathway" depends on early mutational loss of the mismatch repair system (germline and/or somatic) leading to accelerated accumulation of gene mutations in critical target genes and progression to malignancy. Methodologically this second pathway is recognizable by the phenomenon of microsatellite instability. The distinction...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Polymerase chain reaction; Colorectal carcinoma; Microsatellite; P53; DCC; Microsatellite instability.
Ano: 1997 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X1997000800001
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The fallacy of racial pharmacogenomics BJMBR
Pena,S.D.J..
Personalized pharmacogenomics aims to use individual genotypes to direct medical treatment. Unfortunately, the loci relevant for the pharmacokinetics and especially the pharmacodynamics of most drugs are still unknown. Moreover, we still do not understand the role that individual genotypes play in modulating the pathogenesis, the clinical course and the susceptibility to drugs of human diseases which, although appearing homogeneous on the surface, may vary from patient to patient. To try to deal with this situation, it has been proposed to use interpopulational variability as a reference for drug development and prescription, leading to the development of "race-targeted drugs". Given the present limitations of genomic knowledge and of the tools needed to...
Tipo: Info:eu-repo/semantics/other Palavras-chave: DNA; Genetic polymorphisms; Human genomic variability; Race; Pharmacogenomics.
Ano: 2011 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2011000400001
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