One Founder/One Gene Hypothesis in a New Expanding Population

Saguenay (Quebec, Canada)

Bibliographic Data

ID6067779
AuthorsEvelyne Heyer (0000-0002-0266-3196, Centre National de la Recherche Scientifique, corresponding author)
Year2009
Volume81
Issue5-6
Pages645-655
Publication date2009-12-01
Peer ReviewedYes
Open AccessNo
TypeARTICLE
VenueHuman Biology (JOURNAL)
Journal identifiersISSN: 0018-7143 • E-ISSN: 1534-6617
PublisherHuman Biology (The International Journal of Population Biology and Genetics) (PUBLISHER)
DOI10.1353/hub.2009.a381876
PMID20504189
OpenAlexW4379532918
LanguageEN
Citations received6
References cited1

High frequencies of some rare inherited recessive disorders can be found in the Saguenay region of Quebec, Canada. Four disorders have a carrier frequency of about 0.04 (in the range 0.035-0.05): pseudovitamin D-dependent rickets, hereditary tyrosinemia type 1, Charlevoix-Saguenay spastic ataxia, and sensorimotor polyneuropathy with or without agenesis of the corpus callosum. Molecular data suggest that only 1 mutation has been introduced into the population since its founding in the 17th century. The carrier frequencies are much higher than one would expect under a theoretical model that includes variance in family size and population growth (Thompson and Neel 1978). I present a methodology called allele dropping to test the hypothesis that only 1 founder introduced a given mutation. This study is based on 891 ascending genealogies and enables one to measure the extent of allele frequency changes resulting from the demographic history of the population. Two scenarios are tested: neutral and lethal alleles. Lethality has a minor effect because the alleles never reach a frequency high enough for selection to be strong. Twenty-five founders have a probability greater than 1% that a lethal mutation they introduced into the population will reach a carrier frequency between 0.035 and 0.05 in the contemporary population. Moreover, 2 founders have a probability greater than 20% that a lethal allele they introduced into the population will reach this target frequency. Therefore the simplest hypothesis that 1 founder introduced 1 disorder into the population is consistent

Agenesis of the corpus callosum · Allele · Allele frequency · Biology · Corpus callosum · Effective population size · Founder effect · Gene · Genetic variation · Haplotype · Mutation · Population · Amino Acid Enzymes and Metabolism · Demography · Genetic Neurodegenerative Diseases · Genetics · Metabolism and Genetic Disorders · Neurological diseases and metabolism

Tools

Open DOISci-Hub