Geographic variation of the human gene pool
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Section MOLECULAR ANTHROPOLOGY – NEW ADVANCES
GEOGRAPHIC VARIATION OF THE HUMAN GENE POOL:
THE GLOBAL PATTERNS
Balanovsky Oleg1,2
Sychev Roman1
, Koshel Sergey3
, Zaporozhchenko Valery1
, Balanovska Elena2
1Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia
2Research Centre for Medical Genetics, Russian Academy of Medical Sciences, Moscow, Russia
3Cartographic Department, Lomonosov Moscow State University, Moscow, Russia
The studies of genetic variation in human populations started 100 years ago: in 1914, the pronounced
differences in frequencies of blood groups were revealed for the fi rst time. <...> During the century-long history
of intensive research the arsenal of population geneticists has changed six times. <...> The immunological markers
or blood groups (1) were only available genetic systems for decades until biochemical markers (2) were
widely introduced in 1960s. <...> Both types are now known as “classical markers”; the datasets on their variation
in human variations worldwide are large and have been summarized by both Western (Cavalli-Sforza et al.,
1994) and Russian (Gene pool and gene geography of USSR) scientifi c gene geographical schools. <...> The
classical markers are virtually out of experimental use in present days. <...> Since 1990s, the mitochondrial DNA (3) and Y-chromosome (4) became the most popular genetic
systems in population studies. <...> Hundreds of papers were dedicated to their variation, and accumulated datasets
include hundreds thousands of samples from thousands of populations worldwide. <...> However, the number of
papers on these markers decreases each year, because the genome-wide (5) and full genome (6) markers
are becoming the new favorite tools in the arsenal of researchers, but data on these genetic systems are not
abundant yet. <...> Thus, the crucial task is to summarize the accumulated data on mitochondrial DNA and Y-chromosomal
variation, to extract the generalized patterns and to make the overall conclusions of the global gene
pool structure from these two kinds of genetic data. <...> Then these systems will be for many decades the great
story-tellers about general trends in human variation and value of these “new classics” will be high even when
no living researcher will remember experimental methods for their analysis. <...> The talk will present the largest
databases <...>
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