Human Biology最新文献

The study of human variation is central to both social and biomedical sciences, but social and biomedical scientists diverge in how variation is theorized and operationalized. Race is especially problematic because it is a cultural concept that contains implicit and explicit understandings of how collective bodies differ. In this moderately updated article, originally published in Human Biology in 2015 (vol. 87, no. 4, pp. 306-312), we propose an operationalization of race that addresses both racial experience and human biological diversity, placing them within the same ontological sphere. Furthermore, this approach can more effectively advance antiracist pedagogy and politics. We argue that human biological diversity does not have to be in opposition to constructivist notions of race. Rather, racial experience is emphasized as an embodied experience that is as real and as valid as biological variation. By focusing on both racial experience and biological diversity, it becomes more feasible to operationalize race to fruitfully inform the pedagogy and politics of antiracism. To do so, racial experience must be more broadly conceived and should not always equate to negative outcomes. With the recognition that racial experience has the potential to be something other than damaging, an antiracist anthropology can more effectively address issues pertaining to racial health disparities.

Haplogroup Q originated in Eurasia around 30,000 years ago. It is present in Y-chromosomes from Asia and Europe at rather low frequencies. Since America is undoubtedly one of the continents where this haplogroup is highly represented, it has been defined as one of the founding haplogroups. Its M3 clade has been early described as the most frequent, with pan-American representation. However, it was also possible to find several other haplogroup Q clades at low frequencies. Numerous mutations have been described for haplogroup Q, allowing analysis of its variability and assignment of its geographic origin. We have analyzed 442 samples of unrelated men from Argentina and Paraguay belonging to haplogroup Q; here we report specifically on 27 Q (xM3) lineages. We tested 3 single-nucleotide polymorphisms (SNPs) by amplified product-length polymorphism (APLP) analysis, 3 SNPs for restriction fragment length polymorphism (RFLP) analysis, 15 SNPs by Sanger sequencing, and 17 short tandem repeats (STRs). Our approach allowed us to identify five subhaplogroups. Q-M3 and Q-CTS2730/Z780 are undoubtedly autochthonous lineages and represent the most frequent subhaplogroups, with significant representation in self-defined aboriginal populations, and their autochthonous status has been previously described. The aim of present work was to identify the continental origin of the remaining Q lineages. Thus, we analyzed the STR haplotypes for the samples and compared them with haplotypes described by other authors for the rest of the world. Even when haplogroup Q lineages have been extensively studied in America, some of them could have their origin in post-Columbian human migration from Europe and Middle East.

Six blood groups (Rh, MN, Duffy, Kidd, Kell, and Lutheran) were investigated among three major ethnic groups (Bosniaks, Bosnian Croats, and Bosnian Serbs), as well as 10 regional subpopulations across Bosnia and Herzegovina (B&H): Krajina; Posavina; northeastern, eastern, middle, and central Bosnia; Sarajevo region; eastern, central, and western Herzegovina. This is the first study that introduces the molecular genetic typing of five blood groups within the B&H population, with the exception of the RhD blood group. The sample consisted of 450 buccal swabs from unrelated individuals. Five blood group systems (RhD, RhC, RhE, Kidd, MN) were genotyped by PCR with sequence specific primers, while three blood group systems (Kell, Duffy, Lutheran) were genotyped by the PCR-restriction-fragment-length polymorphism method. Minor variation of genetic diversity was observed within the three major B&H ethnic groups, as well as within the 10 subpopulations stratified according to geographical criteria. No genetic differentiation among ethnic groups was noticed. These results are in agreement with the results of previous studies based on different molecular genetics markers, which indicate that the three B&H ethnic groups belong to the same gene pool. A similar level of genetic variance was observed within regional subpopulations, with no significant genetic differentiation among them. Comparison of intrapopulation genetic diversity of the B&H population with other European and non-European populations, based on three loci (RHD, MN, and KEL), clearly show that the level of genetic diversity of the B&H population is within the European range.

Manipur, one of the northeastern states of India, lies on the ancient silk route and serves as a meeting point between Southeast Asia and South Asia. The origin and migration histories of Naga and Kuki tribal populations are not clearly understood. Moreover, Kukis have been traced to two different ancestries, which has created confusion among the people. The present study examined genomic affinities and differentiation of the Naga and Kuki tribal populations of Manipur, Northeast India. Twenty autosomal markers (8 Alu insertion-deletions, 12 restriction-fragment-length polymorphisms) were analyzed. Findings show genetic differences between Naga and Kuki tribal populations with respect to the allele distribution pattern, which was substantiated by genetic differentiation (G_ST = 5.2%) and molecular variance (AMOVA), where the highest percentage of among-group variances was observed between Naga and Kuki tribal groups (7.09%). However, genetic similarities with respect to allele distribution patterns in most of the loci were seen among their respective groups (Rongmei and Inpui, Thadou and Vaiphei). Rongmei and Inpui tribal populations (Naga group) belong to the Naga-Bodo linguistic group, and Thadou and Vaiphei (Kuki group) belong to the Northern Kuki-Chin linguistic group, suggesting that genetic similarities may not be independent of linguistic affinities. Despite differential genetic affinities, both Naga and Kuki tribal populations in Manipur show more proximity with Southeast Asian populations and Northeast Indian populations than with other Indian populations and global populations taken for comparison.

This study aimed to determine the changing prevalence of consanguineous marriage in India between two national-level surveys. The primary hypothesis was whether region of residence and religious affiliation continue to play a significant role in determining consanguineous marriage even after controlling other potentially significant confounding variables. Data from the 81,781 and 85,851 ever-married women during the National Family and Health Surveys (NFHS) survey periods 1992-1993 (NFHS-1) and 2015-2016 (NFHS-4), respectively, were used in the analysis. Multinomial and binary logistic regression analyses examined determinants of consanguineous marriage types and of paternal and maternal first-cousin marriages, respectively. In both analyses a systematic model-building procedure was adopted. Altogether, four models were estimated. In the final model (model 4) of both the analyses, all respondent background characteristics (region of residence, religious affiliation, sociodemographic, household wealth) and years of survey were included. Although the overall prevalence of consanguineous marriage in India declined significantly (16%), it was not uniform across respondent background characteristics. The northern region of India (154%) showed a significant increase in consanguineous marriage, whereas eastern (31%), central (2.3%), northeastern (40%), and southern (8%) regions showed a significant decline. Significant declines in consanguineous marriage were found for Hindus (16%) and Muslims (29%); for Muslims of eastern (48%), central (29%), western (31%), and southern (27%) regions; and for Hindus in the western region (37%). Relative risk ratios estimated using multinomial logistic regression models suggest those living in the southern region show 9.55 (p < 0.001), 5.96 (p < 0.001), and 38.16 (p < 0.001) times more likelihood in the prevalence of first-cousin, second-cousin, and uncle-niece marriages, respectively, compared to the northern region after controlling all other confounding variables. Muslims also showed 3.76 (p < 0.001) and 2.91 (p < 0.001) times more likelihood in first-cousin and second-cousin marriages, respectively, compared to Hindus. Adjusted odds ratios (AORs) estimated using binary logistic regression models suggest those living in southern and northeastern regions were 1.25 (p < 0.001) and 1.36 (p < 0.05) times more likely, respectively, to marry a maternal first cousin compared to the northern region. The AOR estimates also show that Muslims were 1.11 (p < 0.01) times more likely to marry a maternal first cousin compared to Hindus. The authors conclude that, despite significant development in the socioeconomic condition of India during the postglobalization era (beginning in 1992-1993), region of residence and religious affiliation continue to play significant role in determining consanguineous marriage.

Since Frank Livingstone proposed the idea that there are no races, only clines, in 1962, little has changed in how anthropologists study and, ultimately, estimate ancestry. How we talk about the study of human variation may have changed-shifting away from "racial" labels and toward those of supposed ancestral origins-but the methods we use to label and analyze groups, however termed, have remained the same. The author suggests a new theoretical approach to ancestry estimation that does not rely on group labels, using the Howells Craniometric Data Set as an example. In the suggested workflow, the data structures itself into natural clusters, referred to as "morphogroups," without relying on a group label. Each morphogroup is explored for subgroups, and the process is repeated until no further distinctions can be made. At each level an individual is compared to the morphogroup in a descriptive manner, focusing on similarities and differences. Lastly, a multi-iteration classification procedure, using random forest modeling, classifies by morphogroup. In this test, hierarchical clustering identifies the optimal number of natural clusters within the data, and principal components analysis is used to explore morphogroups. (The author provides a markdown file of all code used, at https://rpubs.com/kenyhercz2/717620.) Using this suggested workflow, the author identifies three main morphogroups in the Howells data set, each with different numbers of subclusters ranging from 0 to 8. Morphogroup correct classifications are typically in the mid-90% range, and the accompanying sex estimations, between 93% and 100% correct. The author emphasizes that this is but one of myriad ways ancestry could be estimated. Human variation and identity are not static, and we should help one another rethink and redefine what is possible for our field.

The TAS2R38 gene is involved in bitter taste perception. This study documents the distinctive diversity patterns in northern Africa of functional single-nucleotide polymorphisms (SNPs) rs713598 and rs1726866 at the TAS2R38 locus and places those patterns in the context of global TAS2R38 diversity. Data previously genotyped with TaqMan assay were analyzed for rs713598 and rs1726866 for 375 unrelated subjects (305 Tunisians from seven locations: Mahdia, Sousse, Kesra, Nebeur, Kairouan, Smar, and Kerkennah; plus 70 Libyans). Data were analyzed to present haplotypes and genotypes before comparison with data from worldwide populations. This study provides information about TAS2R38 diversity in a part of the world that is relatively understudied. Considering the two SNPs rs713598 and rs1726866, the CA nucleotide haplotype leading to the PV amino acid haplotype is extremely rare almost everywhere, but it is relatively frequent (between 6% and 15%) in northern Africa, where it coexists with the globally common amino acid haplotypes PA, AA, and AV. Given its higher frequency in North Africa, the authors propose the CA nucleotide haplotype as a biogeographic marker for forensic purposes.

Human identification techniques have been a leading tool to hold perpetrators accountable, give families closure, and approximate faces on skulls. This project is a pilot study to critically examine three disciplines that fall under the human identification umbrella: forensic anthropology, forensic genetics, and forensic art. Current facial research in genetics focuses on data from living individuals, identifying specific single-nucleotide polymorphisms (SNPs) that influence specific regions of the face. This study assesses the translation of these regions to craniometric dimensions (interlandmark distances) of the underlying skull itself. The goal of this project is to provide information regarding the correlation of craniometric measurements and SNPs, as well as to encourage interdisciplinary work within the forensic sciences. We examined a selection of candidate SNPs currently identified in the literature to examine correlations between interlandmark distances and these SNPs within the same individual. A series of 99 craniometric landmarks were collected from 17 documented skulls from the Texas State Donated Skeletal Collection using a three-dimensional Microscribe digitizer. Criteria for inclusion in this study included European American ancestry, presence of intact skulls, and presence of associated donor blood cards collected at the time of body donation. Using these blood cards, DNA from each individual was extracted, amplified, and sequenced through next-generation sequencing for the chosen SNPs. Bioinformatics tests were then applied to observe the presence or absence of the major or minor alleles in specific locations on the genome. After determining the presence or absence of an SNP (minor allele), a set of statistical tests were performed, including Spearman's correlation between the craniometric measurements and the individual's genetic data variables; two-way hierarchical clustering and bootstrap forest modeling between variables that demonstrated significant correlation; a principal components analysis on the craniometric data (interlandmark measurements) and genetic data (SNP presence/absence) to check homogeneity of each data set; and a pairwise Procrustes analysis on the correlation of the two data sets as different groups. The results indicate correlations of varying degrees between the targeted craniofacial regions and the targeted SNPs. Eleven SNPs showed significant correlation (p < 0.05), but the correlations were not as expected and showed some interesting results. By group level there was no significant correlation, but there was correlation at the individual level. While some SNPs affected the soft tissues only, others showed correlations with the skull (hard tissue), a finding not previously reported. Combining craniometric and DNA analyses to leverage genotype-phenotype associations has great potential to expand the discourse of current facial approximation and thereby to provide new investigative tools fo

Skeletal estimation methods to reconstruct the juvenile biological profile are largely limited to those estimating age and, to a lesser extent, sex. While body mass is not generally estimated as part of the biological profile in forensic investigations, this is a logical candidate for inclusion in the forensic biological profile, as it has long been of interest in paleoanthropology and several methods to estimate juvenile body mass currently exist. To explore the performance of body mass estimation for juveniles, the authors tested the accuracy and precision of previously published panel regression formulae using two femoral measurements: the breadth of the distal metaphysis and the cross-sectional polar moment of inertia (J). The test sample consisted of measurements of 94 individuals from birth to 12.5 years of age, taken from postmortem computed tomography scans housed at the Office of the Medical Investigator, New Mexico, USA. Results indicate that body mass estimates are more accurate when estimated from cross-sectional than from metaphyseal measures. Both formulae, however, consistently underestimated weight, and the magnitude of the underestimation increased exponentially with age. This suggests that, contrary to what others have argued, body mass estimation is complicated by population variation in body composition. This study reinforces the importance of documenting and investigating the ontogeny of human variation. The global increase in medical imaging in clinical settings can be leveraged to obtain skeletal data for juveniles from a wide range of ontogenic environments, marking an exciting time for the study of human variation.