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Pregled bibliografske jedinice broj: 58270

Časopis

Autori: Hećimović, Silva; Barišić, Ingeborg; Marković, Dubravko; Škarpa, Ingrid; Relja, Maja; Pavelić, Krešimir
Naslov: Trinucleotide Repeat Diseases - DNA molecular analysis using a simple Expand Long PCR assay
Izvornik: Periodicum Biologorum (0031-5362) 100 (1998), 3; 353-360
Vrsta rada: članak
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.
Projekt / tema: 00981104
Izvorni jezik: ENG
Rad je indeksiran u
bazama podataka:
Scopus
SCI-EXP, SSCI i/ili A&HCI
Science Citation Index Expanded (SCI-EXP) (sastavni dio Web of Science Core Collectiona)
Kategorija: Znanstveni
Znanstvena područja:
Temeljne medicinske znanosti
URL cjelovitog teksta:
Google Scholar: Trinucleotide Repeat Diseases - DNA molecular analysis using a simple Expand Long PCR assay



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