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izvor podataka: crosbi

The fragile X syndrome : a Croatian perspective (CROSBI ID 548599)

Prilog sa skupa u časopisu | sažetak izlaganja sa skupa | međunarodna recenzija

Hećimović, Silva ; Malnar, Martina ; Košiček, Marko ; Čulić, Vida ; Lozić, Bernarda ; Barišić, Ingeborg The fragile X syndrome : a Croatian perspective // Paediatria Croatica. Supplement. 2009. str. 56-56

Podaci o odgovornosti

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

engleski

The fragile X syndrome : a Croatian perspective

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.

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

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Podaci o prilogu

56-56.

2009.

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objavljeno

Podaci o matičnoj publikaciji

Paediatria Croatica. Supplement

1330-724X

Podaci o skupu

Balkan Meetng on Human Genetics (8 ; 2009)

predavanje

14.05.2009-17.05.2009

Cavtat, Hrvatska

Povezanost rada

Temeljne medicinske znanosti

Indeksiranost