Napredna pretraga

Pregled bibliografske jedinice broj: 396966

Haplotype and AGG Interspersion Analysis of the FMR1 Alleles in Croatian Population: no founder effect detected in patients with fragile X syndrome


Đokić, Helena; Barišić, Ingeborg; Čulić, Vida; Lozić, Bernarda; Hećimović, Silva
Haplotype and AGG Interspersion Analysis of the FMR1 Alleles in Croatian Population: no founder effect detected in patients with fragile X syndrome // Human biology, 80 (2008), 5; 581-587 (međunarodna recenzija, članak, znanstveni)


Naslov
Haplotype and AGG Interspersion Analysis of the FMR1 Alleles in Croatian Population: no founder effect detected in patients with fragile X syndrome

Autori
Đokić, Helena ; Barišić, Ingeborg ; Čulić, Vida ; Lozić, Bernarda ; Hećimović, Silva

Izvornik
Human biology (0018-7143) 80 (2008), 5; 581-587

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

Ključne riječi
CGG rpeats; fragile X syndrome; FRAXA; FMR1; DXS548; FRAXAC1; haplotype; linkage; mental retardation; Croatia

Sažetak
Several studies suggested that fragile X syndrome (FRAXA), the most common inherited mental retardation, originated from a limitted number of founder chromosomes. The aim of this work was to assess genetic origin of the fragile X syndrome in Croatian population. We performed haplotype analysis of the polymorphic loci DXS548 and FRAXAC1 in 18 unrelated fragile X and 56 control chromosomes. The AGG interspersion pattern of the FMR1 CGG repeat region was analyzed by sequencing. This is the first report on haplotype and AGG-interspersion analysis of the fragile X syndrome gene in Croatian population – the only eastern European population of Slavic origin analyzed so far. Our findings are intriguing, since they show distinct distribution of the DXS548 and FRAXAC1 alleles in our fragile X population compared to other European fragile X populations. The DXS548/FRAXAC1 haplotype 194/154 (7-3), that is commonly abundant among normal population, was found to be the most frequent in our fragile X population as well. The AGG interspersion analysis indicated that AGG loss rather than haplotype may determine FMR1 allele instability. Our results suggest that no common ancestral X chromosome is associated with the fragile X syndrome in Croatian population studied. Further analysis of fragile X origin among other Slavic populations is necessary in order to better define the eastern European distribution of fragile X chromosomes.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti



POVEZANOST RADA


Projekt / tema
072-1083107-0365 - Istraživanje epidemiologijskih i genetičkih osnova prirođenih mana (Ingeborg Barišić, )
098-0982464-2394 - Gensko liječenje tumora djelovanjem na molekule imunološkog sustava (Jasminka Pavelić, )
098-0982522-2525 - Mehanizam djelovanja kolesterola u nastanku Alzheimerove bolesti (Silva Hećimović, )

Ustanove
Institut "Ruđer Bošković", Zagreb,
KBC "Sestre Milosrdnice"

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE


Uključenost u ostale bibliografske baze podataka:


  • MEDLINE
  • BioOne, Project MUSE