Naslov
The fragile X syndrome : a Croatian perspective

Autori
Hećimović, Silva ; Malnar, Martina ; Košiček, Marko ; Čulić, Vida ; Lozić, Bernarda ; Barišić, Ingeborg

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
Abstracts of the 8th Balkan Meetng on Human Genetics ; / Paediatria Croatica, 53 (2009) S2 / - , 2009, 56-56

Skup
Balkan Meetng on Human Genetics (8 ; 2009)

Mjesto i datum
Cavtat, Hrvatska, 14.05.2009. - 17.05.2009

Vrsta sudjelovanja
Predavanje

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
fragile X syndrome ; mental retardation ; FMR1 gene ; dynamic mutations

Sažetak
Fragile X syndrome (FRAXA, Xq27.3) is the most common inherited mental retardation. It is generally caused by an expansion of the CGG repeat region within the FMR1 gene. In Croatia, we have genetically diagnosed fragile X syndrome since 1996 and have identified 24 fragile X families (FRAXA) and 2 families with the more rare form of the fragile X (FRAXE) so far. The aim of this work was to assess the 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 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