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izvor podataka: crosbi

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

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. 2001. str. 284-284-x

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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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

Povezanost rada

Javno zdravstvo i zdravstvena zaštita