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

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.

journal_name

Hum Genet

journal_title

Human genetics

authors

Haataja R,Väisänen ML,Li M,Ryynänen M,Leisti J

doi

10.1007/BF00211011

subject

Has Abstract

pub_date

1994-11-01 00:00:00

pages

479-83

issue

5

eissn

0340-6717

issn

1432-1203

journal_volume

94

pub_type

杂志文章

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