Different distribution of DXS548 and FRAXAC1 haplotypes between normal and fragile X population in Croatia (CROSBI ID 482250)
Prilog sa skupa u zborniku | sažetak izlaganja sa skupa
Podaci o odgovornosti
Bago, Ružica ; Hećimović, Silva ; Barišić, Ingeborg ; Čulić, Vida ; Pavelić, Krešimir
engleski
Different distribution of DXS548 and FRAXAC1 haplotypes between normal and fragile X population in Croatia
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.
Fragile X syndrome; triplet repeat disease; linkage disequilibrium; haplotype
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nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
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Podaci o prilogu
284-284-x.
2001.
objavljeno
Podaci o matičnoj publikaciji
2nd International Conference on Signal Transduction. European Journal of Human Genetics 9(1), 2001
Podaci o skupu
Nepoznat skup
poster
29.02.1904-29.02.2096