Trinucleotide Repeat Protocols
Yoshinori Kohwi
fev. de 2008 · Methods in molecular biology Livro 277 · Springer Science & Business Media
E-book
342
Páginas
reportAs notas e avaliações não são verificadas Saiba mais
Sobre este e-book
Trinucleotide repeats are relatively common in the human genome. These simple repeats have received much attention since epoch-making discoveries were made that particular trinucleotide repeats are expanded in the causal genes of human hereditary neurological disorders. For example, the CGG repeat is expanded in fragile X syndrome at the 5' untranslated region (UTR) of its causal gene. In myotonic dystrophy, it is the CTG repeat that is expanded at the 3' UTR of its causal gene. The CAG repeat was also found expanded in coding regions of the genes responsible for X-linked spinal and bulbar muscular atrophy, Huntington’s disease, spinocerebellar ataxia, and other disorders. On the other hand, expansion of the GAA repeat was identified in the intron of the gene responsible for the Friedreich’s ataxia. For these trinucleotide repeat diseases, the longer the trinucleotide expansion, the earlier the age of onset and the more severe the syndrome. Thus, these findings that showed the intriguing link between a particular trinucleotide expansion and its associated neurological disorders have led to a new field of intensive study. Active research addressing the underlying mechanisms for trinucleotide repeat diseases has employed various approaches ranging from DNA biochemistry to animal models for the diseases. In particular, animal models for the triplet repeat diseases have provided excellent resources not only for understanding the mechanisms but also for exploring therapeutic interventions.
Avaliar este e-book
Diga o que você achou
Informações de leitura
Smartphones e tablets
Instale o app Google Play Livros para Android e iPad/iPhone. Ele sincroniza automaticamente com sua conta e permite ler on-line ou off-line, o que você preferir.
Laptops e computadores
Você pode ouvir audiolivros comprados no Google Play usando o navegador da Web do seu computador.
eReaders e outros dispositivos
Para ler em dispositivos de e-ink como os e-readers Kobo, é necessário fazer o download e transferir um arquivo para o aparelho. Siga as instruções detalhadas da Central de Ajuda se quiser transferir arquivos para os e-readers compatíveis.
