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Entender a relação entre a variação genética e a função biológica à escala genómica deverá proporcionar uma nova perspectiva sobre a biologia, evolução e fisiopatologia dos humanos e de outras espécies. A razão para o actual interesse em SNP’s é a esperança que eles possam ser usados como marcadores para identificar genes que predispõem para doenças comuns ou multifatoriais. Se precisa de genotipar um pequeno número de SNP’s (<15), a sequenciação Sanger é a metodologia mais adequada para si. Este pequeno numero de SNP’s ocorre em regiões genómicas nas quais a frequências de SNP’s ao nível dos alelos, difere entre os pacientes e o controlo. Supõe-se que os SNP’s ao nível dos alelos são herdados em conjunto com os alelos com predisposição para doenças genéticas ao longo das gerações, uma vez que estão fisicamente próximos uns dos outros. Os genes de doenças predisponentes são genotipados de um modo fácil e rentável.

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