Use of Haplotypes to Study Population Histories

Yale University, New Haven CT

Investigators

Abstract

The preponderance of the evidence points to an African origin for anatomically modern humans with subsequent expansion of those original modern humans in Africa and eventual migration out of Africa to the rest of the world. That migration out of Africa was limited to a relatively small number of individuals leading to a founder effect observed today in all populations outside of Africa. The effect is manifested as (1) an increase in the amount and molecular extent of linkage disequilibrium, (2) a decrease in genetic variation of all non-African populations compared to African populations, and (3) as a progressive subsetting of genetic variation with increasing distance from Africa across EurAsia and then the Americas from north to South America. The scientific aim of this proposal is to determine the nature and magnitude of the out-of-Africa founder effect in the Middle East, Europe, and Asia by discovering and characterizing normal genetic variation in African populations and analyzing the frequency and disequilibrium differences for this variation between African and non-Africans.