Abstracts

Human Genome Diversity

A comparative analysis of main parameters of gene diversity has been carried out for the native population of all historic-geographical subdivisions of the world (North Eurasia, Europe, Hindustan, East Asia, America, Africa, Melanesia, Oceania, Australia) and of the world gene pool in total. The study has been performed at a uniform ethnical level. Only the most thoroughly researched markers are included in the study that is 49 alleles of 20 polymorphic protein loci. In average 257 ethnoses are characterized based on the allele frequencies in approximately 50,000 populations of the world. Original Data Bank "GENE POOL" (MS ACCESS) has been created dedicated to the gene pool of Russia and of its neighboring countries. This Bank integrates data bases dedicated to classical, quasigenetic, DNA and other markers. The Bank is a part of the GIS (geographical information system) and it makes it possible to carry out a statistical and cartographic analysis of gene pools. The cartographic analysis reveals the principal pattern of the North Eurasian gene pool: the longitudinal variability in the "west-to-east" direction.

All gene pools of the world have been analyzed by three parameters indicated below. A specific role of the North Eurasian gene pool was revealed.
1) Similarity of separate regions of the world with the total world gene pool by allele frequencies. The values of genetic distances (from a region to average world frequencies) vary extremely: on average d=0.206 from a region; the maximum distance d=0.360 from Australia; the minimum one d=0.108 from North Eurasia. Thus the North Eurasian gene pool occupies a central place in the range of world gene frequencies and it is the closest one to the global “genetical center".
2) Similarity of the regions with the world gene pool by selective structure. The regions have a slight similarity with the global gene pool (the average correlation factor by all regions is k=0.29). North Eurasia is the only region that takes up a specific place: its level of similarity with global selective structure (k=0.60) is twice as large as that of an average region.
3) Characterization of the regions by gene diversity level. The North Eurasian gene pool is characterized by high levels of all indices: it fills the first place among all regions of the world by the level of total diversity (HT=0.362), the second place by the heterozygosity level (HS=0.335), the third place by the level of inter-ethnical differences (FST=5.9%). The ratio of inter-ethnical differences to the differences in population in ethnos is as follows: 4:1 for North Eurasia, 6:1 for world gene pool.

On the basis of the three independent indices (allele frequencies, selection, gene diversity) the North Eurasian gene pool reflects the world gene pool to the utmost and thus it is the most adequate model object for study of genetic processes in human populations.

The study was sponsored by RFBR and State program "Trends in Genetics".

Note. Abstracts are published in author's edition

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