Abstracts

Human Genome Diversity

Analyses of mitochondrial DNA (mtDNA) variation, and Alu insertion polymorphisms provided some preliminary insights into the genetic structure of Caucasus populations.

Sequences of the first hypervariable segment of the mtDNA control region were obtained from 9 groups representing four major linguistic families (Indo-European, Altaic, and North and South Caucasian) of the Caucasus region. The diversity within and among Caucasus populations exceeds the diversity within Europe, but is less than that in the Near East. Caucasus populations occupy an intermediate position between European and Near Eastern populations in tree and principal coordinate plot, suggesting that they are either ancestral to European populations, or derived via admixture from European and Near Eastern populations. The genetic relationships among Caucasus populations reflect geographic rather than linguistic relationships. Indo-European speaking Armenians and Altaic-speaking Azerbaijanians are most closely related to their nearest geographic neighbors in the Caucasus, not their linguistic neighbors (i.e., other Indo-European/Altaic populations). The mtDNA evidence thus suggests that the Armenian and Azerbaijanian languages represent instances of language replacement that had little impact on the mtDNA gene pool.

We also analyzed 8 Alu insertion loci in 6 populations from the Caucasus. The Caucasus populations exhibit high levels of between-population differentiation, which is almost as large as for worldwide populations. Maximum likelihood tree and principal coordinate analyses both group the Caucasus populations with European populations. Neither geographic nor linguistic relationships appear to explain the genetic relationships of Caucasus populations. Instead, it appears as if they have been small and relatively isolated, and hence genetic drift has been the dominant influence on the genetic structure of Caucasus populations.

Note. Abstracts are published in author's edition

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