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Which populations were included in the first phases of the International HapMap Project?

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The International HapMap Project, which served as a follow-up to the Human Genome Project, investigated genetic variation across diverse groups to better understand the link between human disease and genetic markers.

In the first two stages of the project, known as Phase I and Phase II, researchers analyzed DNA samples from 270 individuals representing four distinct populations:1

  • Japanese individuals1
  • Americans of European descent1
  • Members of the Han Chinese ethnic group1
  • Members of the Yoruba people of Nigeria1

By identifying single nucleotide polymorphisms (SNPs) within these groups, the project aimed to map haplotypes—sets of alleles inherited together—to facilitate more efficient research into disease risk and treatment. While this research raised ethical concerns regarding potential stigmatization or discrimination based on genetic findings, it remains a fundamental resource for understanding human genetic diversity and developing population-based screening technologies.1