Studies of the allelic diversity in micro-satellite locus D16S539, F13B, FESFPS, TH01, and TROX in European population of Russia Ural region using capillary electrophoresis

Allelic frequencies of chromosome micro-satellite locuses D16S539, F13B, FESFPS, TH01 and TPOX were determined, within the case study, in a sampling of Europeoidal individuals residing in Russia's Ural Region. The allelic variants were analyzed by capillary electrophoresis after the enzyme amplification in polymerase chain reaction with fluorescent primers. The genotypic frequencies of the studied locuses were shown not to divert with statistical reliability from Hardy-Weinberg equilibrium. The estimated aggregate discriminative potential for a panel of 5 studied locuses made 0.99995. No nonequilibrium was found by linkage between alleles of all lucuses examined within the present case study or between their alleles and the alleles of previously investigated locuses D7S820 and D13S317. The implemented testing of the population homogeneity of allelic frequencies of investigated locuses for 3 samplings of Europeoids showed a deviation for locus FESFPS versus the Ural and Polish samplings and for locus F13B in the Ural and North America samplings. The distribution of allelic frequencies of other locuses was homogenous in the compared samplings.     

Population study of D1S80 locus in Caucasians living in the Ural region of Russia by capillary electrophoresis

A series of screening tests showed that separation of polymerase chain reaction products and identification of D1S80 by capillary electrophoresis with the use of hydroxyethyl cellulose as the substituting screening template and double internal DNA reference is an accurate, rapid, and reliable method, fit for routine use. D1S80-allele frequencies for Caucasian population were determined in a population of 340 unrelated individuals living in the Ural region of Russia. The D1S80 genotypical frequencies in this population sample do not statistically deviate from the Hardy-Weinberg expectations. The discrimination power for this locus is 0.935. Significant deviations from the zero hypothesis of population homogeneity were detected by comparison of 4 Caucasian population samples. Differences in the frequencies of alleles 25, 30, and 31 seem to be the main cause of heterogeneity in paired comparison.     

The use of capillary electrophoresis for the study of D13S317 and D7S820 microsatellites in Caucasian population of the Ural region of Russia

A method for the simultaneous amplification and typing of microsatellites D13S17 and D7S820 by using monocomplex sets GenePrint Fluorescent STR Systems ("Promega Corp.", USA) was worked out. The offered method is accurate, reproductive, sensitive and needs a short time for analysis. Allele frequencies D13S17 and D7S820 for the above mentioned Caucasians were determined on the population sample of 120 persons who were not relatives and who resided in the Ural region of Russia. The genotype frequencies of both locuses in this population sample did not differ statistically from Hardy-Weinberg equilibrium. The aggregate discrimination factor for both locuses amounted to 0.995. The null hypothesis of independence among locuses D13S17 and D7S820 was checked by using an accurate test. No relation was found between alleles of the 2 tested locuses in the population sample of Ural Caucasians. The testing of the null hypothesis of the population homogeneity of allele frequencies of the examined locuses showed, among 5 Caucasian population samples, a reliable difference only for locus D7S802 in case of a couple of an Ural and Polish population sample. Allele frequencies for other couples were homogeneous.     

Population study of HLA DQA1, LDLR,GYPA, HBGG,D7S8, and GC loci in Caucasians living in the Ural region of Russia

Allele frequencies have been determined for 6 tested locuses. The distribution of HLA DQA1 gene and locuses of Polymarker kit (Perkin Elmer, USA) for population studies conformed to the Hardy-Weinberg equilibrium (HWE). Inequilibrium for linkage for all possible locus pairs was tested by an accurate test. No statistically significant inequilibrium was detected. Paired comparison of allele frequencies of tested locuses of the Ural population with other Caucasoid populations showed homogeneity for GYPA, HBGG, D7S8, and HLA DQA1 locuses. Significant differences for 1 and 2 of the 4 compared pairs were detected for LDLR and GC locuses, respectively. The total discrimination potential for 6 tested locuses was 0.9995. Our population study showed that high informative value of the tested genetic markers and conformity to HWE make them a useful tool for forensic genetic studies in the Ural Caucasoid population. Preliminary assessment of the efficiency of PCR of 6 studied locuses by capillary electrophoresis is highly effective in typing of DNA samples isolated from material evidences with negligible content of biological material with presumably high degree of degradation and for evaluating the positive and negative amplification controls.