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Pregled bibliografske jedinice broj: 73919

Zbornik radova

Autori: Bago, Ružica; Hećimović, Silva; Barišić, Ingeborg; Čulić, Vida; Pavelić, Krešimir
Naslov: Different distribution of DXS548 and FRAXAC1 haplotypes between normal and fragile X population in Croatia
Izvornik: 2nd International Conference on Signal Transduction. European Journal of Human Genetics 9(1), 2001
Skup: 2nd International Conference on Signal Transduction (Dubrovnik Conference on Cellular Signaling 2000)
Mjesto i datum: Dubrovnik-Cavtat, Hrvatska, 26.-31.05.2000.
Ključne riječi: Fragile X syndrome; triplet repeat disease; linkage disequilibrium; haplotype
Sažetak:
The fragile X syndrome is caused by expansion of the (CGG)n repeat in 5 end of the FMR1 gene. In order to look for linkage disequilibrium between the fragile X locus and its flanking markers, we analyzed the DXS548 and FRAXAC1 microsatellite markers in normal and unrelated fragile X males of Croatian origin. Different distribution of alleles and haplotypes was found between these two samples. A significant increase in frequency of DXS548 allele 2 was found among fragile X patients when compared to normal individuals (31, 3% vs 2.86%). We also noticed a different distribution of FRAXAC1 allele A (18.8% in fragile X group vs. 10.0% in normal population). Haplotype 7-C was the most represented in normal population (57.14%), while haplotypes 2-C, 8-C and 2-A were more frequent in fragile X group (accounted for 43.75% of all fragile X chromosomes and less than 4% of normal population). This difference may suggest the existence of linkage disequlibrium between the two loci and/or selective advantage of this haplotypes among fragile X affected individuals in Croatia.
Vrsta sudjelovanja: Poster
Vrsta prezentacije u zborniku: Sažetak
Vrsta recenzije: Nema recenziju
Projekt / tema: 072777
Izvorni jezik: ENG
Kategorija: Znanstveni
Znanstvena područja:
Javno zdravstvo i zdravstvena zaštita



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