Naslov
A simple and rapid analysis of triplet repeat diseases by Expand Long PCR

Autori
Hećimović, Silva ; Vlašić, Jelena ; Barišić, Ingeborg ; Marković, Dubravko ; Čulić, Vida ; Pavelić, Krešimir

Izvornik
Clinical Chemistry and Laboratory Medicine (1434-6621) 39 (2001), 12; 1259-1262

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

Ključne riječi
triplet repeat diseases; molecular diagnosis; DNA analysis; PCR

Sažetak
It is known that 15 monogenic, mostly neurological disorders are caused by the same type of mutations that occur in trinucleotide repeat sequences in certain genes. Since they share a nonspecific and variable phenotype, the accurate diagnosis could be made only by DNA analysis. We developed an Expand Long PCR assay that provides more reliable molecular diagnosis of such disorders. Its main characteristics are robust amplification of expanded alleles, simplicity, low cost and speed. We suggest the use of Expand Long PCR for routine molecular diagnosis of triplet repeat diseases, and present such analysis of the fragile X syndrome, myotonic dystrophy and Huntingtons disease

Izvorni jezik
Engleski

Znanstvena područja
Javno zdravstvo i zdravstvena zaštita

POVEZANOST RADA