Abstract
Microsatellite markers RS46 (DXS548) and FRAXAC2 flanking the fragile X mutation, an expansion of a (CGG)n repeat within the FMR-1 gene, were typed in 60 unrelated northern and eastern Finnish fragile X families and in a control population from the same geographical region. A significant difference was found in allelic and haplotypic distributions between the normal X and fragile X chromosomes. Evidence for a strong founder effect was detected, with the haplotype 196-153 being present on 80% of the fragile X chromosomes, but on only 8% of the normal X chromosomes. In addition to this major haplotype, four minor haplotypes were found on the fragile X chromosomes. These results suggest that the majority of present-day fragile X mutations in Finland may have a common initial ancestor, probably from the 16th century.
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Haataja, R., Väisänen, ML., Li, M. et al. The fragile X syndrome in Finland: demonstration of a founder effect by analysis of microsatellite haplotypes. Hum Genet 94, 479–483 (1994). https://doi.org/10.1007/BF00211011
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DOI: https://doi.org/10.1007/BF00211011