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Alzheimers Dement ; 10(5 Suppl): S277-S283.e10, 2014 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-24239249

RESUMO

BACKGROUND: A mutation in presenilin 1 (E280A) causes early-onset Alzheimer's disease. Understanding the origin of this mutation will inform medical genetics. METHODS: We sequenced the genomes of 102 individuals from Antioquia, Colombia. We applied identity-by-descent analysis to identify regions of common ancestry. We estimated the age of the E280A mutation and the local ancestry of the haplotype harboring this mutation. RESULTS: All affected individuals share a minimal haplotype of 1.8 Mb containing E280A. We estimate a time to most recent common ancestor of E280A of 10 (95% credible interval, 7.2-12.6) generations. We date the de novo mutation event to 15 (95% credible interval, 11-25) generations ago. We infer a western European geographic origin of the shared haplotype. CONCLUSIONS: The age and geographic origin of E280A are consistent with a single founder dating from the time of the Spanish Conquistadors who began colonizing Colombia during the early 16th century.


Assuntos
Doença de Alzheimer/genética , Predisposição Genética para Doença , Mutação , Presenilina-1/genética , Idade de Início , Colômbia , Efeito Fundador , Haplótipos , Humanos , Padrões de Herança , População Branca/genética
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