Os estudos dos microssatélites do cromossomo Y e do mtDNA permitem a construção da história humana, através de uma visão genética, estabelecendo relações entre a genética populacional, o ambiente e o comportamento.
Segundo o geneticista norte-americano John Avise, a filogeografia pode ser definida como o campo de estudo dos princípios e processos que governam a distribuição geográfica de linhagens genealógicas dentro das espécies, com ênfase em fatores históricos (Avise 2000). Desta forma, a filogeografia ajuda a contar a história da humanidade desde sua gênese, reconstruindo teoricamente os processos evolutivos que a originou, até os mais recentes processos de colonização. Os modelos evolucionários propostos buscam apontar quais os possíveis mecanismos que teriam determinado os grupos populacionais e os padrões de variação que são observados nas populações modernas, por serem estes, reflexos desta história demográfica. Como conseqüência, diversos trabalhos apresentam a composição da população Pernambucana como sendo uma mistura de ameríndios, europeus e africanos. Alguns tomam como base as freqüências alélicas e haplotípicas de STR, outros utilizam os marcadores característicos de algumas populações como os SNP, Indels, CCR5 entre outros (Bastos-Rodrigues et al. 2006).
O estudo dos hapótipos humanos tem, invariavelmente, transformado, não só a área forense, como tem causado avanços em serviços relacionados à ancestralidade e genealogia. Alguns projetos incorporam várias gerações e famílias com o propósito de determinar a linhagem ancestral e graus de parentesco entre pessoas. Vários sitios na Internet disponibilizam uma grande diversidade de serviços que podem
podemos citar o Family Tree DNA, que oferece uma gama de serviços de análise de Y-STR com até 37 marcadores e análise de genealogia, com consulta on-line; a página de Charles F. Kerchner Jr.:
(http://www.kerchner.com/haplogroups-ydna.htm),
através da qual participa-se de grupos de discussão e pode-se adquirir adereços com alusão aos haplogrupos do cromossomo Y e de mtDNA; e o YBASE (http://www.ybase.org/shaplo.asp), uma página na qual pode-se verificar os haplótipos existentes no banco de dados, origem geográfica e haplogrupos já identificados; o Etno Ancestry (http://www.ethnoancestry.com), no qual emite-se a certificação do indivíduo pertencente ao haplogrupo após submeter-se ao exame de diversos marcadores binários; e ainda o GENE (http://laboratoriogene.info/Genealogia_por_DNA/index.htm), um grupo de pesquisa brasileiro, que entre outros serviços, oferece o diagnóstico da ancestralidade genômica utilizando os marcadores autossômicos (indels) para prognosticar as contribuições genômicas (européia, africana e ameríndia) de um indivíduo. Deve-se observar que quanto mais informação existir sobre a genealogia, composição haplotípica e relação genética entre os indivíduos, maior será a acurácia dos modelos propostos nos estudos filogeográficos e de genética de populações. Estes modelos ajudarão a propor os mecanismos que orientam a distribuição das freqüências gênicas, e como conseqüência, resolver os problemas futuros de natureza populacional, auxiliando inclusive nas políticas públicas de saúde, uma vez estabelecidas relações entre os marcadores genéticos e determinadas doenças.
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1 Departamento de Genética, Centro de Ciências Biológicas, Universidade
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Corresponding author: Luiz Mauricio da Silva Dept. de Genética – CCB
Universidade Federal de Pernambuco – Cidade Universitária 50.000-000 Recife, PE, Brazil
HAPLÓTIPOS E HAPLOGRUPOS DO CROMOSSOMO Y NO
ESTADO DE PERNAMBUCO, BRASIL: a contribuição de três
etnias
Introdução
Os haplótipos do cromossomo Y têm sido freqüentemente usados em estudos de evolução humana auxiliando na identificação da origem étnico- geográfica e da afiliação lingüística dos indivíduos. Estes estudos levam em conta que os haplótipos da região não recombinante do cromossomo Y (NRY) devem ter se originado a partir de haplótipos característicos dos primeiros ancestrais humanos. À medida que estes indivíduos migraram para novas regiões, o conjunto inicial de genes foi sendo alterado por mutações que resultaram em novos haplótipos e passaram a se comportar como uma nova linhagem evolutiva independente (Pena et al. 2000).
O agrupamento dos indivíduos em haplogrupos tem base na