Founder effect and genetic disease in Sottunga, Finland

Dados Bibliográficos

ID8320798
AutoresElizabeth O’brien (0000-0003-4648-8358, University of Utah), L B Jorde (0000-0002-0606-1862, University of Utah), Björn Rönnlöf (Folkhälsans Forskningscentrum), Johan Fellman (0000-0002-7162-7121, Folkhälsans Forskningscentrum), Johan O Fellman, Aldur W Eriksson (Folkhälsans Forskningscentrum)
Ano1988
Volume77
Fascículo3
Páginas335-346
Data de publicação1988-11-01
Peer ReviewedSim
Open AccessSim
TipoARTICLE
PeriódicoAmerican Journal of Physical Anthropology (JOURNAL)
Identificadores do periódicoISSN: 0002-9483 • E-ISSN: 1096-8644
EditoraWiley (PUBLISHER • GB)
DOI10.1002/ajpa.1330770306
PMID3067585
OpenAlexW2114531984
IdiomaEN
Citações recebidas11
Referências citadas22

Pedigree data are analyzed in order to determine the factors responsible for the high frequencies of certain genetic disorders in an isolated Swedish‐speaking population of Finland's Å land archipelago. The founders of Sottunga are identified, and the genetic contributions of each founder to descending birth cohorts are estimated. Founders born before 1700 have far more descendants in the contemporary gene pool than do more recent founders. However, because of migration and depopulation since 1900, the expected genetic contributions of the early founders to the present‐day population are similar to those of later founders. A descendant in the contemporary population has a 2% chance of having inherited a particular gene from the founder who makes the largest single contribution to the gene pool. This corresponds approximately to a 2% probability of inheriting an autosomal dominant disease gene from this founder. Given an average inbreeding coefficient of 0.0016, the probability of inheriting two recessive disease genes from this founder is 0.000032. The incidence of autosomal dominant von Willebrand disease in Sottunga is greater than 10% while that of autosomal recessive tapetoretinal disease is 1.5%. We conclude, therefore, that the high frequencies of these diseases are not due to the disproportionate genetic contribution of one or a few particular founders. It is more likely that these disease genes occurred in high frequency in the initial population or were introduced repeatedly through time

Biology · Disease · Evolutionary biology · Founder effect · Gene · Genotype · Haplotype · Genetically Modified Organisms Research · Genetics · Internal Medicine · Medicine