The genetic evidence for human origin of Jivaroan shrunken heads in collections from the Polish museums.

Advances in forensic identification using molecular genetics are helpful in resolving some historical mysteries. The aim of this study was to confirm the authenticity of shrunken-head artifacts exhibited by two Polish museums. Shrunken heads, known as tsantsas, were headhunting trophies of South American Indians (Jivaroan). A special preparation preserved their hair and facial appearance. However, it was quite common to offer counterfeit shrunken heads of sloths or monkeys to collectors of curiosities. We sampled small skin specimens of four shrunken-head skin from the museum collection from Warsaw and Krakow, Poland. Following genomic DNA isolation, highly polymorphic short tandem repeats were genotyped using a commercial chemistry and DNA sequencing analyzer. Haplogroups of human Y chromosome were identified. We obtained an informative genetic profile of genomic short tandem repeats from all the samples of shrunken heads. Moreover, amplification of amelogenin loci allowed for sex determination. All four studied shrunken heads were of human origin. In two ones, a shared Y-chromosome haplogroup Q characteristic for Indigenous Americans was detected. Another artifact was counterfeited because Y-chromosome haplogroup I2 was found, characteristic for the Southeastern European origin. Commercial genetic methods of identification can be applied successfully in studies on the origin and authenticity of some unusual collection items.

Mutations of microsatellite autosomal loci in paternity investigations of the Southern Poland population.

In this study, germline mutations were analyzed for 26,040 parent-child allelic transfers among subjects referred to paternity testing and originating from the Slavonic population of the Southern Poland. Mutation rates were estimated for 15 autosomal microsatellite loci: D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818 and FGA. There were 35 mutation events observed at 11 from 15 analyzed loci. No mutations were found at TH01, D2S1338, D19S433 and TPOX loci. The mutation rate estimate was 0.0019 [0.0012-0.0028 95% CI] for paternal and 0.0004 [0.0002-0.0009] for maternal meiosis, while 25% mutations remained unassigned. The locus-specific mutation rate ranged from 0.0000 [0.0000-0.0014] to 0.0046 [0.0022-0.0087]. Mutations observed in male germlines were more frequent than in female germlines.

[Identification of rare genetic variants at DXS10074, DXS10079, DXS10146 and DXS10148 loci of investigator argus X-12 multiplex in the south Polish population]. / Identyfikacja rzadkich wariantów genetycznych w loci DXS10074, DXS10079, DXS10146 oraz DXS10148 multipleksu investigator argus X-12 w populacji Polski poludniowej.

In recent years, the analysis of X-linked short tandem repeats (X-STR), beside autosomal and Y-chromosomal STR loci, has become widely used in forensic genetic investigations. The usefulness of X-STRs markers in forensic medicine is confirmed by their high biostatistical parameters obtained for different populations. Such population studies performed on particular ethnic groups allow for demonstrating the presence of, rare genetic variants that are not included in the allelic ladders of commercially available multiplex kits. The presence of these alleles can increase the power of evidence. On the other hand, the off-ladder alleles can be sometimes difficult to interpret. In this paper, X-STRs analysis was performed in a population sample of 200 unrelated females and males from the Southern Poland using Investigator Argus X-12 Kit. Seven rare off-ladder alleles were encountered: DXS10074*15.2, DXS10079*24, DXS10146*38.2, DXS10146*47.2, DXS10148*17, DXS10148*21.1 and DXS10148*22 that were not previously reported in the Polish population. Additionally, genetic transmission of these genetic variants was ascertained.

[A rare D19S433*7 variant in the paternity case with mutation]. / Rzadki wariant alleliczny D19S433*7 w badaniu spornego ojcostwa z mutacja.

During a routine paternity casework performed with an automated genotyping using the AmpFISTR Identifiler kit, a lack of paternal allele segregation in D21S11 and off-ladder allele in D19S433 locus was observed. This raised suspicion of mutation because the other systems showed transmission of putative father's alleles to the child. To achieve the recommended value of paternity index (PI), the range of analysis was extended by additional autosomal loci (Penta D and Penta E) and haplotype of the chromosome Y. No further exclusions were observed. Additionally, a new PowerPlex ESI 17 kit was used. By comparison, the results common for both the multiplex kits confirmed the presence of the mutation in D21S11 locus. In locus D19S433, a rare variant D19S433*7 allele was evidenced in the putative father and the child. This variant allele was included in size range of allelic ladder in the PowerPlex ESI 17 kit, but not in AmpFfSTR Identifiler kit. The variant D19S433*7 allele was not reported in the Polish population before. ThlSTRe PowerPlex ESI 17 genotyping kit has two advantages, i.e. introduction of 6 loci not included in the Identifiler kit, and extended ranges of allelic ladders. It seems that a careful scrutiny of fluorescent signals following electrophoretic separation is essential to detect rare variant alleles and to avoid misinterpretation of the results.

[A mutation within DYS389I locus in the missing person identification case]. / Mutacja locus DYS3891 wykryta podczas identyfikacji zaginionej osoby.

An identification case is presented, in which a body of a deceased man was not recognized by his brother due to the corpse decomposition. The comparative material included DNA originating from the brother of the missing individual. In the Hemogenetics Laboratory of the Forensic Medicine Department, Jagiellonian University Medical College, bone tissue samples were genotyped for 16 STR loci on the chromosome Y and found concordant with the brother's reference sample, except a single locus DYS389I. Extended analysis for 15 autosomal STR loci confirmed that these men were brothers. Thus, a new mutation was encountered in DYSS389I. When included in the biostatistical calculations, the mutation did not diminish the cumulative likelihood ratio of sibship because of the very high likelihood based on autosomal loci analysis and nonexistence of the Y chromosome haplotypes in the known population databases.

Clonal lymphocytic populations in Philadelphia-negative chronic myeloproliferative disorders: is the T-cell clonality of 'undetermined' significance (TCUS) linked to a worse clinical outcome?

This study examined the clonality of B- and T-cells by PCR in 83 patients with Philadelphia-negative myeloproliferative disorders (Ph-MPD), to investigate its clinical and morphological correlates. Clonal lymphocytic populations were found in 23% of patients (T: n = 20, B: n = 3), with no frequency differences between ET, CIMF and PV. At the presentation, patients with clonal bands were older (58.1+/-13.8 vs 47.5+/-14.6, p = 0.0039), but did not differ in other clinical parameters. After the median follow-up of 21 months they were less likely to be asymptomatic (11.8% vs 41.1%, p = 0.029). The T-cell clonality was the strongest predictor of the symptomatic last follow-up by discriminant function analysis, surpassing the patient's age. This surprising negative prognostic impact of lymphocyte clonality in Ph-MPD may result from this phenomenon to be a better measure of the 'hematopoietic biologic age' than the metrical age itself.

[Allelic variant 6' at locus D13S317 in a paternity casework; a semi-automatic genotyping problem]. / Wariant alleliczny ukladu D13S317.6' w badaniu spornego ojcostwa; znaczenie w genotypowaniu pólautomatycznym.

During a routine paternity casework, performed with automated genotyping using an AmpFISTR Identifiler kit, an inconsistency affecting maternal segregation of D13S317 allele was encountered, manually detected as a variant allele in the mother and child. Alleles of the putative father were transmitted in 13 out of 15 autosomal STR loci, but in CSF1PO locus, there was an apparent mutation. We, therefore, directly sequenced the variant D13S317 allele in the mother and the child and compared the results to the available data on variant alleles within this STR locus. The variant allele consisted of 6 TATC repeats and an additional AATC motif, thus, by a similarity to the previously reported variant, it was labeled D13S317.6'. It seems that the variant allele is quite rare in the Polish population, however, its electrophoretic mobility between preceding TH01 alleles and that of D13S317 one, requires a careful scrutiny of automated genotyping traces to avoid misinterpretation of the results.