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Genotype-phenotype correlations: our contribution to the Human Genome Project


It is our aim to contribute for the Human Genome Project focusing neuromuscular disorders, craniocinostosis, cleft-lip as well as malformation syndromes, cystic fibrosis, psychiatric disorders and also other conditions which have not Been mapped yet, with the following goals: to contribute for the understanding of the molecular mechanisms responsible for inherited disorders aiming for future treatments through gene therapy; to prevent the birth of new affecteds through the identification of families at-risk , carrier detection and prenatal diagnosis. Our research plan, using molecular biology technology , as summarized below, has the following objectives: a) to continue to collaborate for the mapping of new genes in families with rare disorders, large enough for linkage analysis; b) to verify if there is genetic heterogeneity in disorders whose genes are being mapped and estimate the proportion of different allelic forms in different racial groups from our population ; c) to screen for intragenic mutations in genes which are or will be cloned; d) to perform genotype-phenotype correlations through the analysis of DNA, protein products and the resulting phenotype; e) to establish a DNA bank for all affected families currently under investigation or of potential interest for the future. Our Laboratory has experience in the molecular biology technology (DNA, RNA and protein analyses) required for such investigations. In addition the Brazilian population has several advantages for such studies which are: a) the existence of large families which are extremely important for gene mapping; b) the racial miscegenation; c) the existence of small communities highly inbred. (AU)

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