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The fragile X syndrome in Finland: demonstration of a founder effect by analysis of microsatellite haplotypes

✍ Scribed by Rutva Haataja; Marja-Leena Väisänen; Muyao Li; Markku Ryynänen; Jaakko Leisti

Book ID
104666436
Publisher
Springer
Year
1994
Tongue
English
Weight
379 KB
Volume
94
Category
Article
ISSN
0340-6717

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✦ Synopsis

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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