Ireneusz Soltyszewski

Population genetics of 15 STR loci in the population of Podlasie (NE Poland)

Allele frequencies for 15 STR loci included in AmpFlSTR Profiler and AmpFlSTR SGM Plus kits were determined in a sample of 413 unrelated individuals living in the region of Podlasie (NE Poland)

Population genetics of 10 STR loci in a population of Central Poland

Allele frequencies for the 10 short tandem repeats (STRs) included in AmpFlSTR SGM Plus amplification kit (D3S1358, vWA, D16S539, D2S1338, D8S1179, D21S11, D18S51, D19S433, TH01, FGA) were estimated from a sample of 500 unrelated individuals born in Central Poland.

Analysis of forensically used autosomal short tandem repeat markers in Polish and neighboring populations

The purpose of this study was to evaluate the homogeneity of Polish populations with respect to STRs chosen as core markers of the Polish Forensic National DNA Intelligence Database, and to provide reference allele frequencies and to explore the genetic interrelationship between Poland and neighboring countries. The allele frequency distribution of 10 STRs included in the SGMplus kit was analyzed among 2176 unrelated individuals from 6 regional Polish populations and among 4321 individuals from Germany (three samples), Austria, The Netherlands, Sweden, Czech Republic, Slovakia, Belarus, Ukraine and the Russian Federation (six samples). The statistical approach consisted of AMOVA, calculation of pairwise Rst values and analysis by multidimensional scaling. We found homogeneity of present day Poland and consistent differences between Polish and German populations which contrasted with relative similarities between Russian and German populations. These discrepancies between genetic and geographic distances were confirmed by analysis of an independent data set on Y chromosome STRs. Migrations of Goths, Viking influences, German settlements in the region of Volga river and/or forced population resettlements and other events related to World War II are the historic events which might have caused these finding.

X-chromosomal polymorphism data for the ethnic minority of Polish Tatars and the religious minority of Old Believers residing in northeastern Poland

Population samples of 420 unrelated individuals of the ethnic minority of Polish Tatars and the religious minority of Old Believers residing in northeastern Poland were tested for four X-chromosomal STR frequencies by multiplex PCR and subsequent automated fluorescent detection (ABI 310) using a commercially available kit Mentype Argus X-UL. Kinship tests revealed a typical X-linked inheritance with no mutation. Significant differences in allele frequency distributions confirm previous findings regarding genetic variation among ethnic groups residing in northeastern Poland.

Loss of heterozygosity (LOH)--implications for human genetic identification.

The aim of this study was assessment of possible effects of loss of heterozygosity on human genetic identification of histolopathogical tissue sections. DNA templates were extracted from tumour tissue specimens excised from oncological patients and from reference blood samples. AmpFlSTR Identifiler PCR Amplification Kit and ABI 310 Genetic Analyzer (Applera) were used to obtain genetic profiles. Frequency of LOH was calculated for respective samples. Fishers exact test was performed for statistical analysis. Forty-two percent of the 101 cancer cases analysed were found to possess alterations of the microsatellites manifesting with allelic loss. The most frequently altered loci were D3S1358 and D18S51. The alteration was detected in 47% of cases with larynx carcinoma, 44% of cases with uveal melanoma, 60% of cases with cervical cancers, one case of liposarcoma G3 and one case od neurofibrosarcoma. No LOH was found in liposarcoma G1, dermatofibrosarcoma and cystosarcoma protuberans in either primary or recurrent tumours. In benign tumours (lipoma and fibroma) LOH was also absent. During genotyping of DNA extracted from histopathological tissue sections caution should be taken when non-match or exclusion based on few discrepancies is concluded.

Polish population data on 15 autosomal STRs of AmpFlSTR NGM PCR kit.

The objective of the research was to provide a comprehensive database of autosomal microsatellite loci included in AmpFlSTR NGM PCR kit for a population of Poland considering possible genetic differentiation of a forensic interest. Fifteen STR markers were analyzed in 2041 unrelated individuals residing in eight geographically different regions. All the loci were found to be in Hardy-Weinberg equilibrium. The combined probability of match is 3.52 × 10(-19) and the combined Power of Exclusion is 0.9999998. The F(ST) estimate over all 15 STRs is 0.0051 for the Polish population. We established that a combined NGM database may be employed for a Polish population.

Sequence analysis of a new short tandem repeat locus D17S2266E located in the human growth hormone gene cluster HumGH

Abstract:  D17S2266E is a new, variable genetic marker exhibiting polymorphism of the number of repeats of four‐ and two‐nucleotide motifs. This study, carried out on a group of 250 unrelated persons from various regions of Poland, revealed the presence of 24 different alleles ranging in size from 232 to 290 base pairs. Analysis of the sequenced fragments demonstrated that the alleles consisted of two flanking regions and two variable blocks that were separated by a consensus sequence. There were (AAAG)5(AG)1(AAAG)3–4 repeats in the first block, and [(AAAG)2(AG)1]0–1[(AAAG)6(AG)1]0–1(AAAG)n repeats in the second block. On the basis of the allele frequencies in the population, we were able to do biostatistical calculations, which gave the following results: expected heterozygosity 0.8947 ± 0.0137, power of discrimination 0.9793, polymorphism information content 0.8837, probability of exclusion (PE) 0.7859, PE for motherless cases 0.6473, and an average paternity index of 4.7470. These biostatistical parameters show that the marker D17S2266E can find a wide range of applications in forensic testing.

Genetic variation of 15 autosomal STRs in a population sample of Bedouins residing in the area of the Fourth Nile Cataract, Sudan

ABSTRACT The purpose of the paper was to report allelic frequencies of 15 autosomal STR markers (AmpFlSTR NGM PCR Amplification Kit) for Bedouin inhabitants in the area of the Fourth Nile Cataract in Sudan, and compute commonly used population and forensic biostatistical parameters. Buccal swabs were collected from 117 unrelated individuals. DNA was extracted using DNA QIAamp® DNA Mini Kit, and quantitated with Quantifiler Human Quantification Kit in a 7500 Real-Time PCR System. Amplification of 15 AmpFlSTR NGM PCR Kit loci was performed in PCR System 9700. Electrophoresis and typing were performed in 3130 Genetic Analyzer. Arlequin v3.5 software and PowerStats v1.2 spreadsheet were used for statistical calculations. The STR frequency distributions showed no deviations from HWE. The combined values of Matching Probability and Power of Exclusion are 1.77 × 10-18 and 0.9999996, respectively. The average observed heterozygosity over 15 loci is 0.8069. Five different allelic microvariants were found. A significant linkage disequilibrium was observed in five pairs of loci. A 15 STR population database has been established for Sudanese Bedouins. The systems studied have been shown to be useful tool for personal identification in this population.

Genetic data on 10 STRs in a population sample of Old Believers living in the northeastern Poland

Abstract This study provides a 10-STR database for a population sample of Old Believers ( n =116) living in the northeastern Poland. For the FGA and TH01 loci, a departure from HWE was observed. The combined values of the Matching Probability and of the Power of Exclusion are 3.48×10 −12 and 0.9949, respectively. Significant differences were found for FGA and D21S11 between the Old Believers and the autochthonous Polish population by using R×C test.