Naslov
Trinucleotide Repeat Diseases - DNA molecular analysis using a simple Expand Long PCR assay

Autori
Hećimović, Silva ; Barišić, Ingeborg ; Marković, Dubravko ; Škarpa, Ingrid ; Relja, Maja ; Pavelić, Krešimir

Izvornik
Periodicum Biologorum (0031-5362) 100 (1998), 3; 353-360

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
trinucleotide repeat regions; dynamic mutations; fragile X syndrome; Huntington's disease; molecular diagnosis; PCR analysis; triplet repeat diseases

Sažetak
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.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti

POVEZANOST RADA