The fragile X syndrome in Finland: demonstration of a founder effect by analysis of microsatellite haplotypes.
Hum Genet
; 94(5): 479-83, 1994 Nov.
Article
em En
| MEDLINE
| ID: mdl-7959680
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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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Haplótipos
/
DNA Satélite
/
Proteínas de Ligação a RNA
/
Efeito Fundador
/
Síndrome do Cromossomo X Frágil
Limite:
Female
/
Humans
/
Male
País/Região como assunto:
Europa
Idioma:
En
Revista:
Hum Genet
Ano de publicação:
1994
Tipo de documento:
Article
País de afiliação:
Finlândia