You are here: Home :: Area NEM :: Medical science :: Human medicine

Silvia He?imovi?, Jelena Vla?ic, Ingeborg Bari?i?, Dubravko Markovi?, Vida ?uli?, Kre?imir Paveli?

A Simple and Rapid Analysis of Triplet Repeat Diseases by Expand Long PCR

It is now 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 Huntington's disease.

Clinical Chemical Laboratory Medicine, Walter de Gruyter

Print ISSN: 1434-6621
Volume: 39, 12/2001
Pages: 1259 - 1262

Show full article (external site)

Show all available items of this journal

 

Area NEM