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Título: Fragile X Syndrome: Genetic Backgrouds
Autor: Loureiro, Joana
Marques, Isabel
Oliveira, Bárbara
Amorim, António
Santos, Rosário
Jorge, Paula
Palavras-chave: FRAXA
Doenças Genéticas
Issue Date: Dec-2010
Editora: Sociedade Portuguesa de Bioquímica
Resumo: Fragile X Syndrome (FXS) is the most frequent hereditary form of mental retardation, caused by an expansion of polymorphic [CGG] repeats in the 5’UTR region of the FMR1 gene; the molecular mechanism of this expansion is, however, still unknown. Based on [CGG] triplet number, three allele classes can be distinguished: normal sized-alleles (5-50 repeats); pre-mutation alleles (50-200 repeats) and the full mutation where alleles have an expansion of over 200 CGG repeats. Previous studies using Short Tandem Repeat (STR) haplotypes of mutant chromosomes in diverse populations revealed founder effects based on linkage disequilibrium between CGG repeats and flanking molecular markers.
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