Gene frequencies of 12 STR loci in an endogamous Badaga population (South India).
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Allelic polymorphism of five microsatellite loci of the human Y chromosome (DYS19, DYS390, DYS391, DYS392, and DYS393) was analyzed in samples of male populations from Ukraine, Russia, and Belarus (152 subjects in total). The allelic diversity indices (Dg) were determined for all loci; they varied from 0.23 to 0.72. The mean values of this parameter in the Ukrainian, Russian, and Belarussian populations were 0.45, 0.47, and 0.52, respectively. A total of 53 different haplotypes were found in 152 subjects from three populations. The most frequent haplotype was found in 14.5% of the subjects, whereas 35 haplotypes (23%) were each found in only one person. The haplotypic diversity index (Dhp) was 0.94. The genetic distances between the populations studied and some populations of Western and Central Europe were estimated. These data were used to construct a phylogram (tree) of genetic similarity between the populations, which demonstrated that the three Eastern Slavic populations are genetically close to one another and remote from Western European populations.
We have obtained the alleles and haplotype distribution of 100 unrelated males from the Chinese Han and Zhuang populations at the four Y chromosome-specific loci A10, C4, A7.1, A7.2 by fluorescent primers and with 377 DNA sequencer. We observed 7, 6, 6, 6 alleles in loci A10, C4, A7.1, A7.2 respectively, the gene diversity (GD) values are 0.7776/0.629, 0.773/0.732, 0.5978/0.7272, 0.6664/0.6458 (Zhuang/Han). 114 haplotypes were found in 200 males, haplotype diversity (HD) values are 0.9786, 0.9772 (Zhuang/Han). We have confirmed the core repeats and its repeating number of these alleles by sequencing. A tetraplex PCR system consisting of the A10, C4, A7.1 and A7.2 loci was set up and it is of good specificity. We investigated the validation at these four Y-STRs loci in forensic application such as the male specificity, genetic stability and the sensitivity. In conclusion, the four Y-STRs loci are very suitable to forensic medicine analysis and paternity test.
Quality assurance samples submitted from the NCSBI as part of a contract with TBTG to outsource DNA Database samples showed unexpected discrepancies for the locus D16S539 when all other loci yielded identical results. Discrepancies observed included allele drop out and an imbalance in sister alleles with samples returned from TBTG. This led to a comprehensive review of the technical procedures used between the two laboratories to determine the cause of the discrepancies noted for the locus D16S539, since both laboratories were using the PowerPlex 1.1 typing kit from the Promega Corporation. The NCSBI and the TBTG utilize different extraction methods (organic extraction vs. FTA) and amplification conditions (AmpliTaq vs AmpliTaq Gold), respectively, so the exact cause of discrepancy observed was not immediately apparent. Experiments at the NCSBI associated the observed allele drop out and the imbalance of the sister alleles with the use of AmpliTaq Gold and a hot start procedure. Sequencing data revealed that a point mutation resides on the D16S539 primer-binding site that reaches polymorphic levels in African-American populations. This led to the development of a degenerate primer by the Promega Corporation to detect "missing" alleles when AmpliTaq Gold is used. The degenerate primer was then thoroughly tested to show its efficacy in detecting the "true" D16S539 profile when used.
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