Trinucleotide Repeat Diseases - DNA molecular analysis using a simple Expand Long PCR assay (CROSBI ID 90452)
Prilog u časopisu | izvorni znanstveni rad | međunarodna recenzija
Podaci o odgovornosti
Hećimović, Silva ; Barišić, Ingeborg ; Marković, Dubravko ; Škarpa, Ingrid ; Relja, Maja ; Pavelić, Krešimir
engleski
Trinucleotide Repeat Diseases - DNA molecular analysis using a simple Expand Long PCR assay
Recently discovered dynamic mutations have been found to cause several inherited neurological disorders, the so called triplet repeat diseases. Dynamic mutations occur in CGG, CTG, CAG or GAA repeat regions and an increase in trinucleotide repeats beyond a certain number (expansion) causes the disease. Polymerase chain reaction tecnique has been used to detect these expansions. However, amplification of very large expansions has shown to be in some way problematic, disabling their reliable detection. In this work we tested if Expand long PCR can be suitable for molecular analysis of triplet repeat diseases. In particular, we studied whether Expand Long PCR amplifies CGG and CAG repeat regions in fragile X syndrome and Huntington's disease. The results of the two year molecular diagnosis of the fragile X syndrome and Huntington's disease among clinically preselected individuals are also presented.
trinucleotide repeat regions; dynamic mutations; fragile X syndrome; Huntington's disease; molecular diagnosis; PCR analysis; triplet repeat diseases
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Podaci o izdanju
Povezanost rada
Temeljne medicinske znanosti