Update of aims population data and test with the genogeographer admixture module

Individuals from Slovenia, Greece, Albania, and Eritrea were typed with the Precision ID Ancestry Panel and included among GenoGeographer’s nine reference populations (Sub-Saharan Africa, Horn of Africa, North Africa, Middle East, Europe, South/Central Asia, East Asia, and East and West Greenland). We tested the performance of GenoGeographer with the Admixture Module on AIM profiles of 3548 individuals assumed to belong to one of the reference populations. A total of 3387 (95.5 %) profiles were assigned to one or more of the reference populations, either a single population or an admixture of two or more populations, while 161 (4.5 %) profiles were not assigned to any reference population or admixtures thereof. For 1486 AIM profiles with no reference population of origin in GenoGeographer, the rejection rate was more than 70 % for AIM profiles from North and South America and less than 20 % for those from Central, North, and Northeast Asia.     

Horizons of long-distance intimacies: Reciprocity, contribution and disjuncture in Cape Verde

This article employs the renewed anthropology of kinship to revisit historical approaches to the study of social relations taking place in transnational social fields. Based on multi-sited qualitative anthropological fieldwork with a strong historical perspective centred on biographical interviews and social network analysis, the author examines a particular Cape Verdean household that comprises four generations and extends its contacts between several Cape Verdean islands, Portugal, São Tomé/Príncipe as well as the United States. The contextualization of the individual life courses of its members and their changing relatedness in the course of time brings to surface a complex design of factors that contribute to the sense of belonging or detachment in this Creole transnational island society. These are different levels of mobility, the challenges and limits of diverse levels of technical connectivity between several localities, the dynamics between approved relatedness and family-based migration regimes as well as the normative aspects resulting in a gendered perspective on the demands of reciprocity. The author introduces the notion of a “contributive family model” in order to capture the individual choice of keeping in touch and the meaning of social practices, which transform ideas of relatedness into reconfirmed transnational solidarities.     

Classification of the Y-haplogroup distributions of Western Eurasian populations using a self-learning algorithm

The understanding of historical relationship between populations is a core aspect of human population history studies. We have compared the frequency of 18 different Y-SNP haplogroups in 90 Western Eurasian populations. Classification of haplogroup distribution vectors using a new self-learning classification algorithm so called “self-organizing cloud (SOC)” proved to be an effective tool to identify population groups, which share common paternal genetic features. By means of the algorithm, we have determined 10 different classes of populations based on the similarity of haplogroup composition. The analysis showed that paternal genetic markers tend to reflect geographical proximity of populations better than linguistic relationship, although certain Y-SNP haplogroups have relatively good correlation with specific language families. These observations are based on the comparative analysis of the Hg distributions of contemporary populations may reflect demographic history of them in the past.     

Population genetic data of five X-chromosomal loci in Bauru (São Paulo, Brazil)

Genetic population data for five X-STR (DXS6854, DXS7424, DXS101, DXS6808 and DXS7132) were obtained from Bauru population (São Paulo, Brazil). No deviations from the Hardy-Weinberg equilibrium were observed, with the exception of DXS101. The combined powers of discrimination in males and females were 0.99897253 and 0.99999120, respectively. These high values show the potential of this system in human identification and paternity testing.     

Inferring the population of origin of DNA evidence within the UK by allele-specific hybridization of Y-SNPs

Marked differences in Y-SNP allele frequencies between continental populations can be used to predict the biogeographic origin of a man's ancestral paternal lineage. Using 627 samples collected from individuals within the UK with pale-skinned Caucasian, dark-skinned Caucasian, African/Caribbean, South Asian, East Asian or Middle Eastern appearance we demonstrate that an individual's Y-SNP haplogroup is also strongly correlated with their physical appearance. Furthermore, experimental evaluation of the Marligen Signet Y-SNP kit in conjunction with the Luminex 100 detection instrument indicates that reliable and reproducible haplogrouping results can be obtained from 1 ng or more of target template derived from a variety of forensic evidence types including, blood, saliva and post-coital vaginal swabs. The test proved highly male-specific with reliable results being generated in the presence of a 1000-fold excess of female DNA, and no anomalous results were observed during degradation studies despite a gradual loss of typable loci. Hence, Y-SNP haplogrouping has considerable potential forensic utility in predicting likely ethnic appearance.     

Y-chromosomal haplotype diversity for 27 STR loci in the Tigray population (Northern Ethiopia)

The Horn of Africa is among the main areas of origin of migrants trying to reach Europe through the so-called central Mediterranean route (from Libya to Sicily). Migration-related accidents in the Straits of Sicily are commonplace. In such circumstances, Y-STR analysis can effectively complement autosomal STR data in the identification of shipwreck victims and help reuniting families separated during the crossing.To expand currently available Y-STR haplotype reference data for Eastern Africa, the AmpFlSTR YFiler Plus PCR Amplification kit (Thermo Fisher Scientific) was used to analyze samples from 247 Ethiopian Tigray volunteer donors. The Tigray ethno-linguistic group represents over 95% of the population in the Regional state of Tigray (Northern Ethiopia), and accounts for ∼50% of the population in neighboring Eritrea.The results obtained were compared with those available for other Eastern African ethno-linguistic groups and neighbor populations from Northern Africa and the Middle East.     

Y chromosome SNP analysis in a Portuguese population sample using a multiplex PCR and minisequencing strategy

The study of single nucleotide polymorphisms (SNPs) located on the Y chromosome specific region Y-SNPs (92R7, M70, M22, Tat, P25, SRY10831, M173, M213 and M9) was used to characterize a population sample from Central Portugal, in order to investigate the frequency distribution of the male lineages and to compare the observed results with those obtained in other Portuguese regions.The genotyping strategy was according to the described by Brion et al. [M. Brion, et al., Int. J. Legal Med. 119 (2004) 10-15].In this population sample from Central Portugal a typical Western European haplogroup composition was found. The majority of samples (almost 70%) were assigned inside haplogroup R. As for other Iberian populations, the most frequent haplogroup was R1b-P25 (52.2%), followed by F(xK)-M213 (15.2%), E-B-SRY10831.1, R1(xR1a,b)-M173 and R1a-SRY10831.2 (each of them with a 8.7% frequency), K2-M70 (4.3%) and L-M22 (2.2%). When comparing our sample with other samples from Portugal, no significant differences were found.     

Population structure of Y chromosome SNP haplogroups in the United States and forensic implications for constructing Y chromosome STR databases

A set of 61 Y chromosome single-nucleotide-polymorphisms (Y-SNPs) is typed in a sample of 2517 individuals from 38 populations to infer the geographic origins of Y chromosomes in the United States and to test for paternal admixture among African-, European-, Hispanic-, Asian-, and Native-Americans. All of the samples were previously typed with the 11 core U.S. Y chromosome short tandem repeats (Y-STRs) recommended by SWGDAM, which revealed high levels of among ethnic group variation and low levels of among-population-within-ethnic-group variation. Admixture estimates vary greatly among populations and ethnic groups. The frequencies of non-European (3.4%) and non-Asian (4.5%) Y chromosomes are generally low in European-American and Asian-American populations, respectively. The frequencies of European Y chromosomes in Native-American populations range widely (i.e., 7-89%) and follow a West to East gradient, whereas they are relatively consistent in African-American populations (26.4+/-8.9%) from different locations. The European (77.8+/-9.3%) and Native-American (13.7+/-7.4%) components of the Hispanic paternal gene pool are also relatively constant among geographic regions; however, the African contribution is much higher in the Northeast (10.5+/-6.4%) than in the Southwest (1.5+/-0.9%) or Midwest (0%). To test for the effects of inter-ethnic admixture on the structure of Y-STR diversity in the U.S., we perform subtraction analyses in which Y chromosomes inferred to be admixed by Y-SNP analysis are removed from the database and pairwise population differentiation tests are implemented on the remaining Y-STR haplotypes. Results show that low levels of heterogeneity previously observed between pairs of Hispanic-American populations disappear when African-derived chromosomes are removed from the analysis. This is not the case for an unusual sample of European-Americans from New York City when its African-derived chromosomes are removed, or for Native-American populations when European-derived chromosomes are removed. We infer that both inter-ethnic admixture and population structure in ancestral source populations may contribute to fine scale Y-STR heterogeneity within U.S. ethnic groups.     

Y chromosome J2 subtyping in an Italian sample: Population and forensic implications

In the recent years the Y chromosome genealogy has been refined by a number of newly discovered SNPs. The non-random distribution of the Y chromosome lineages worldwide makes fundamental the dissection and characterisation of haplogroups associated with specific geographic areas. In Southern Europe the haplogroup J2, as defined by the M172 marker, can reach frequencies up to 35%, making the dissection of such lineage critical for population studies. Here we present a study on J2 chromosomes from the Italian peninsula. Populations and forensic implications are discussed. A total of 900 individuals were previously genotyped for a number of SNPs, including M172. More than 200 of these have been now genotyped for 7 SNPs within the J2 lineage using a multiplex SNaPshot approach. The different distribution of the various lineages in different geographic areas probably reflects different historical demographic events and points to differential Y chromosome haplotype distribution, with implication for forensic application of this genetic marker.     

Analysis of 16 Y STR loci in the Finnish population reveals a local reduction in the diversity of male lineages

We analysed samples of 400 Finnish males using nine Y-chromosomal short tandem repeat (STR) loci (minimal haplotype); for 200 of these subjects an additional seven Y-chromosomal STR loci were used. The geographical distribution of the observed haplotypes was determined from 200 individuals of known paternal origin within Finland. The observed number of alleles varied from 2 to 13 alleles per locus. A total of 146 minimal haplotypes were identified in our population sample. Interestingly, 90 (22.5%) individuals shared an identical haplotype. This haplotype was extremely frequent in the northern and eastern subpopulations of Savo, Pohjanmaa and Karjala (53, 42 and 37%, respectively). With the seven additional loci analysed in the sample of 200 individuals, 120 haplotypes were identified, and individuals sharing the most common haplotype decreased to 13.0%. However, in comparison to other European populations, the Finnish population showed decreased genetic diversity (GD) when the number of different minimal haplotypes in the population was divided by the sample size (36.5% in Finns versus 83.7% on average). Our results strongly support the earlier hypothesis of individual isolated Y-chromosomal lineages and population substructuring in Finland. For paternity testing, power of exclusion was 92% using minimal haplotype data, but including the seven additional loci this value increased to 97%.     

Independence and inter-dependence: Household formation patterns in eighteenth century Kythera,Greece

While earlier hypotheses concerning the household formation patterns of Greek populations were proved mistaken, further hypotheses have been proposed. Though the small number of existing studies prevents us from conclusively describing the household formation patterns in nineteenth century Greece, no studies exist referring to eighteenth century. This paper examines the household formation patterns on eighteenth century Kythera using nominal census and notarial sources. It demonstrates that Kythera did not belong either to the West or to the East, as these were described by Hajnal; neither did its household formation system conform to Laslett's Mediterranean tendency in quotation marks. The widespread prevalence of nuclear households in Kythera disguised the strong economic links between the paternal household and those of his sons. Thus, the residential independence, as demonstrated in the quantitative analysis of the census, contrasts the economic inter-dependence between the paternal and the son's households, as depicted in the qualitative notarial sources.     

Mass spectrometry-based SNP genotyping as a potential tool for ancestry inference and human identification in Chinese Han and Uygur populations

Ancestry informative SNPs (AISNPs) are genetic variants that exhibit substantially different frequencies between populations from different geographical regions; thus, they can provide some valuable information regarding samples and be used in predicting an individual's ancestry origin. In this study, we selected the potentially best SNPs from our previous study with genome-wide high-density SNP data in mainland Chinese Uygur and Han populations and investigated the allele distribution patterns and genetic information of AISNPs with a mass spectrometry-based SNP genotyping panel. Mass spectrometry-based detection technology offers the opportunity to analyze forensic DNA samples and obtain SNP variants with accuracy and ease. The panel can distinguish and cluster Han and Uygur populations and is suitable for human identification and parentage testing in the two populations. Heatmap, PCA, and Structure analyses indicated that the ideal 64 AISNPs can collectively provide additional information on differences among populations from East Asia, South Asia, Europe and Africa. Additionally, the results proved that the Uygur population is the admixture of East Asia and Europe.     

Applying social psychology: The case of redistributions in unified Germany

Large redistributions between West and East will be necessary within the unified Germany for a long time. The perceived justice of these redistributions is discussed, applying theory and evidence from social justice research and research on prosocial behavior. Views about just distributions and entitlements vary according to the preferred principles of distributions and according to attributions of responsibility for existing inequalities. It is, hypothesized that acceptance of redistributions in West Germany depends on whether the East is seen as having been unjustly disadvantaged after World War II when it was assigned to the influence sphere of the Soviet Union. This fact can be considered in analogy to an exploitation of the East by the West. On the other hand, the economic, problems in the East may also be considered self-inflicted by the former communist regime. A key question is what the attitudes of the population in the former GDR had been toward the communist regime. If the population is considered the victim of the regime, it is entitled to get support; if it is considered to have been sympathetic toward the regime, this is not the case. Acceptance of redistributions depends not only on their justice but also on their efficiency. The relative weight of justice and efficiency depends on the reasons given for the support. If support means repaying debts that were accumulated during the preceding period of being undeservedly privileged in the West, justice will remain the dominant criterion. If support is justified by actual neediness of the East, it will only be granted as help to self-help. Claims for discontinuity of support are expected if it will not be efficient in a near future. Some dangers concerning the integration of the two populations are outlined by listing some potential conditions for a growing distance and reciprocal discrimination up to a reciprocal ethnification between the Eastern and the Western populations.     

Results of Y-SNP typing in three different populations

Y-SNPs are additional markers which came in the focus of forensic scientists since several years. The presented study uses 29 of these polymorphisms to detect the distribution of the haplogroups. Samples of three different European populations (one population is located in Far East, the Primorye Region of Russia) previously typed with Y-STRs were investigated. The results show the high potential of these markers to get information about the geographic origin of the paternal line.     

EA-YPredictor:基于Y-STR数据的家系特异性单倍群归属判别分析软件

目的Y染色体为男性所特有,其遗传标记蕴含着丰富的生物地理信息,故可溯源家系,在嫌疑人排查和追踪中发挥作用。Y-STR突变率较高,而Y-SNP突变率极低,几乎不会发生回复突变,所以后代男性群体携带祖先特有的Y-SNP。本研究期望通过现在我国Y库建设中通用的17个Y-STR的单倍型数据预测Y-SNP单倍群细支。方法基于前期观察,选取千人基因组计划III期中的513例东亚人群(中国及周边区域)作为基础数据集,在Java平台和Microsoft Excel软件框架下,以遗传距离计算和Y染色体进化树构建手段相联合研发Y-STR数据的家系特异性单倍群归属判别分析软件:EA-YPredictor。结果本研究揭示了15个单倍群大支下的核心单倍型。通过随机选取70个公开数据库样本,EA-YPredictor软件预测准确性达到92.8%(95%置信区间:[84.1%,97.6%])。结论在Y-SNP复合扩增检测尚无定论的情况下,本软件可基于二代测序样本对Y-STR数据库样本进行单倍群细支的准确预测,能适用于辅助家系单倍群判断。随着测序技术的不断换代和优化,更多高通量的Y-STR和Y-SNP数据补充将会使本软件进一步优化。此外,本软件对于Y数据库中Y-SNP遗传标记的筛查建库有一定指向作用。     

Analysis of ethnic origin asymmetries in uniparental lineages in Argentinian population

With the aim to study Argentinian ethnic structure and its miscegenation, we analyzed the mitochondrial DNA (mtDNA) and Y-chromosome Short Tandem Repeats (Y-STR) of 1580 blood samples from male donors. Our results showed that the population has a greater presence of Native American lineages on the maternal side (68.73 %) regarding the paternal line (4.18 %), alongside a majority of Eurasian origins in the paternal line (92.47 %). From the independence analysis, a significant difference was observed when compared with that expected by random crossings. The results are in agreement with a model where the miscegenation of native women with European men prevails, which has been widely observed in Argentine’s migratory currents and population history.     

GENETIC PORTRAIT OF THE PUNJABI POPULATION FROM PAKISTAN USING THE PRECISION ID ANCESTRY PANEL

Prediction of geographical ancestry using genetic markers has a great potential in forensic genetics and may be used as an investigative lead in crime casework or missing person identification. Exploration of AIMs in Pakistan is interesting due to the distinct subpopulations with multidirectional ancestry from different groups. In the current study, 87 individuals from the Punjabi population from Pakistan were investigated using the Precision ID Ancestry Panel (Thermo Fisher Scientific) to assess whether it was possible to diff ;erentiate Punjabi individuals from other populations. With this panel, it is revealed that Punjabis are admixed and cannot be distinguished from other populations in South Central Asia and the Middle East.     

Recently introduced Y-SNPs improve the resolution within Y-chromosome haplogroup R1b in a central European population sample (Tyrol, Austria)

Three recently described Y-chromosome single nucleotide polymorphisms (Y-SNPs) were typed in a sample of 135 men from Tyrol (Austria). These SNPs define sub-clades of haplogroup (hg) R1b. The derived states of U152 (hg R1b3h) U106 (R1b3i) and U198 (R1b3i1) were found within the Austrian R1b population sub-sample (N = 42) in 9 (21.4%), 25 (59.5%), and 1 (2.4%) individuals, respectively. Only 8 (19.0%) of the hg R1b Y-chromosomes remained unresolved. These novel SNPs proved to be promising tools for distinguishing R1b lineages in the evolutionary as well as in the forensic context.     

Typing of mitochondrial DNA coding region SNPs of forensic and anthropological interest using SNaPshot minisequencing

The development of new methodologies for high-throughput SNP analysis is one of the most stimulating areas in genetic research. Here, we describe a rapid and robust assay to simultaneously genotype 17 mitochondrial DNA (mtDNA) coding region SNPs by minisequencing using SNaPshot. SNaPshot is a methodology based on a single base extension of an unlabeled oligonucleotide with labeled dideoxy terminators. The set of SNPs implemented in this multiplexed SNaPshot reaction allow us to allocate common mitochondrial West Eurasian haplotypes into their corresponding branch in the mtDNA skeleton, with special focus on those haplogroups lacking unambiguous diagnostic positions in the first and second hypervariable regions (HVS-I/II; by far, the most common segments analyzed by sequencing). Particularly interesting is the set of SNPs that subdivide haplogroup H; the most frequent haplogroup in Europe (40–50%) and one of the most poorly characterized phylogenetically in the HVS-I/II region. In addition, the polymorphic positions selected for this multiplex reaction increase considerably the discrimination power of current mitochondrial analysis in the forensic field and can also be used as a rapid screening tool prior to full sequencing analysis. The method has been validated in a sample of 266 individuals and shows high accuracy and robustness avoiding both the use of alternative time-consuming classical strategies (i.e. RFLP typing) and the need for high quantities of DNA template.     

Typing of mitochondrial DNA coding region SNPs of forensic and anthropological interest using SNaPshot minisequencing

The development of new methodologies for high-throughput SNP analysis is one of the most stimulating areas in genetic research. Here, we describe a rapid and robust assay to simultaneously genotype 17 mitochondrial DNA (mtDNA) coding region SNPs by minisequencing using SNaPshot. SNaPshot is a methodology based on a single base extension of an unlabeled oligonucleotide with labeled dideoxy terminators. The set of SNPs implemented in this multiplexed SNaPshot reaction allow us to allocate common mitochondrial West Eurasian haplotypes into their corresponding branch in the mtDNA skeleton, with special focus on those haplogroups lacking unambiguous diagnostic positions in the first and second hypervariable regions (HVS-I/II; by far, the most common segments analyzed by sequencing). Particularly interesting is the set of SNPs that subdivide haplogroup H; the most frequent haplogroup in Europe (40-50%) and one of the most poorly characterized phylogenetically in the HVS-I/II region. In addition, the polymorphic positions selected for this multiplex reaction increase considerably the discrimination power of current mitochondrial analysis in the forensic field and can also be used as a rapid screening tool prior to full sequencing analysis. The method has been validated in a sample of 266 individuals and shows high accuracy and robustness avoiding both the use of alternative time-consuming classical strategies (i.e. RFLP typing) and the need for high quantities of DNA template.