Abstracts

Human Genome Diversity

At present time, microsatellite loci known as short tandem repeats (STRs) are used actively because its are widespread in the human genome, multiallelic, highly heterozygous, and are powerful and convenient markers for genetics studies. Since allele frequencies are different significantly between populations, it is necessary to evaluate the applicability of the STR marker for practical aims and for description of populations. Tetranucleotide STRs have several technical advantages because the bands for different alleles are widely spaced in the gels and less prone to artificial slippage. These properties facilitate unambiguous allele designation and permit to compare data from different laboratories, and so an increase in the number of tetranucleotide markers studied is advisable. The purpose of this study was to evaluate the allelic polymorphism at three tetranucleotide loci in Tomsk population.

Allele frequency distribution of the loci D2S1242, D11S1983 и D16S2624 was determined accordingly in 210, 163 and 175 samples from unrelated individuals residents in Tomsk city and village Kargala, Tomsk region. Oligonucleotide primers were synthesized in Institute of Medical Genetics, Tomsk, information about nucleotide sequence and PCR conditions have been received from GDB (www.gdb.org). The PCR products were analyzed using 7% and 8% nondenaturing polyacrylamide gel electrophoresis with staining by ethidium bromide solution. Results were registered using computer video system "UV-VIS Imager-II" (USA). Program RxC was utilized to calculate allelic frequencies, genotype distribution and other figures.

Typing for locus D2S1242 revealed in Tomsk population 9 alleles with size ranged from 139 to 171 bp. Observed genotype number was 28 from 45 possible (76%). Allele frequencies distribution agreed with normal, with modal class 159 bp. Observed heterozygosity (Hetо) was equal 0,885, expected heterozygosity (Hete) was 0,842+/-0,036, polymorphism information content (PIC) = 0,532. Marker D11S1983 (chromosomal localization 11q12-q13.1) was found extremely polymorphous and display 15 alleles with size varied from 208 to 264 bp. Distribution of the allele frequencies was bimodal with modal classes 323 bp and 252 bp, observed genotype number was 50 from 120 possible (41%). Hetо was equal 0,876, Hete was 0,887+/-0,031, PIC = 0,796. Typing for marker D16S2624 (chromosomal localization 16q22.1) revealed in Tomsk population 6 alleles with size 133 - 153 bp. It was observed 16 genotypes out of 21 possible ones (76%). Distribution of the allele frequencies was normal with modal allele 141 bp. Hetо was equal 0,749, Hete was 0,715+/-0,034, PIC was equal 0,532. Thus, three tetranucleotide markers studied are highly heterozygous, convenient for analysis and can be used in scientific and practical fields.

Note. Abstracts are published in author's edition

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