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Pregled bibliografske jedinice broj: 73919

Different distribution of DXS548 and FRAXAC1 haplotypes between normal and fragile X population in Croatia


Bago, Ružica; Hećimović, Silva; Barišić, Ingeborg; Čulić, Vida; Pavelić, Krešimir
Different distribution of DXS548 and FRAXAC1 haplotypes between normal and fragile X population in Croatia // 2nd International Conference on Signal Transduction. European Journal of Human Genetics 9(1), 2001
Dubrovnik-Cavtat, Hrvatska, 2001. str. 284-284 (poster, nije recenziran, sažetak, znanstveni)


Naslov
Different distribution of DXS548 and FRAXAC1 haplotypes between normal and fragile X population in Croatia

Autori
Bago, Ružica ; Hećimović, Silva ; Barišić, Ingeborg ; Čulić, Vida ; Pavelić, Krešimir

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

Izvornik
2nd International Conference on Signal Transduction. European Journal of Human Genetics 9(1), 2001 / - , 2001, 284-284

Skup
2nd International Conference on Signal Transduction (Dubrovnik Conference on Cellular Signaling 2000)

Mjesto i datum
Dubrovnik-Cavtat, Hrvatska, 26.-31.05.2000

Vrsta sudjelovanja
Poster

Vrsta recenzije
Nije recenziran

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.

Izvorni jezik
Engleski

Znanstvena područja
Javno zdravstvo i zdravstvena zaštita



POVEZANOST RADA


Projekt / tema
072777

Ustanove
Klinika za dječje bolesti Medicinskog fakulteta