Human Population Genetics

Context: Inbreeding increases the level of homozygotes for autosomal recessive disorders and is the major objective in clinical studies. The prevalence of consanguinity and the degree of inbreeding vary from one population to another depending on ethnicity, religion, culture and geography. Global epidemiological studies have revealed that consanguineous unions have been significantly associated with increased susceptibility to various forms of inherited diseases. Objective: The study aimed to determine the role of consanguinity in human health and to highlight the associated risks for various diseases or disorders. Methods: PubMed and Google Scholar search engines were used to explore the published literature on consanguinity and its associated risks using the key words " consanguinity " , " prevalence " , " inbreeding depression " , " coefficient of inbreeding " , " child health " , " mortality " , " human health " , " homozygosity " and " complex diseases " in different combinations. The studies were screened for eligibility on the basis of their epidemiological relevance. Results: This comprehensive assessment highlights the deleterious consequences in populations with a higher prevalence of consanguinity among different countries worldwide. Conclusions: To avoid the inbreeding load there is the need to improve socioeconomic and educational status and to increase public awareness of reproductive health and anticipated deleterious effects. Premarital and pre-conception counselling of consanguineous populations should be an integral part of health policy to train people and make people aware of its harmful consequences. Furthermore, runs of homozygosity (ROH) and whole-exome sequencing (WES) are useful tools in exploring new genomic signatures for the cause of inbreeding depression.

Humans first peopled the North American Arctic (northern Alaska, Canada, and Greenland) around 6000 years ago, leaving behind a complex archaeological record that consisted of different cultural units and distinct ways of life, including the Early Paleo-Eskimos (Pre-Dorset/Saqqaq), the Late Paleo-Eskimos (Early Dorset, Middle Dorset, and Late Dorset), and the Thule cultures.

Indigenous peoples’ and genome scientists’ respective definitions and practices of making ‘indigeneity’ illustrate their competing notions of identity, origins, and futures. This article explores these genomic and indigenous ‘articulations’ of indigeneity, both their similarities and profound differences. Scientists who study ancient global human migrations and human genome diversity draw on an understanding of ‘indigeneity’ that appears to overlap with, but fundamentally contradicts, the use of this concept by the global indigenous movement. Genomic articulations privilege genetic ancestry as defining indigenous ‘populations’. In contrast, indigenous articulations of indigeneity emphasize political status and biological and cultural kinship constituted in dynamic, long-standing relations with each other and with living landscapes. To demonstrate how differences in definitions matter, I draw examples from several scientific and indigenous projects that entangle DNA knowledge with judgments about indigenous identities, and I note resulting policy implications. I first examine two key narratives of indigeneity and race that underlie the genomic articulation of indigeneity: ‘indigenous peoples are vanishing’ and ‘we are all related/all African’. I then explore two cases where genomic and indigenous articulations clash and overlap – the ‘Kennewick Man’ case and the use of DNA testing for tribal enrollment. Yet genomic articulations, with their greater truth-governing power, may inadvertently reconfigure indigeneity in ways that can undermine tribal and First Nations’ self-determination and the global indigenous anticolonial movement. Indeed, some indigenous peoples have recently adopted genomic articulations of identity, perhaps to their own detriment.

This course will involve the intensive study of the evolutionary implications of genetic variation within/between human populations in relationship to ecological and cultural variation. It will take a biocultural and evolutionary approach to the investigation of these patterns and will investigate questions relating to human biological variation on a population level.  Evolutionary theory and genetic advances will be considered in relation to climatic adaptation, nutrition, energetics, disease, and stress adaptation.  We will explore unique patterns in the human life cycle and in human growth and aging.  We will further examine demographic patterns as they exist in the world today and as they might inform the future of human population biology.

Based on samples of the I1-Z140-03 subclade (“Rhine brаnсh”) an age assessment of the relevant phylogenetic tree has been performed, as well as an analysis of its geographical distribution, and determination of typical DYS-values. A judgment has been proposed how this subclade does match with the geographical distribution of Schwabs (Alemans).

The rapid spread of the Proto-Slavic language in the second half of the first millennium CE was long explained by the migration of its speakers out of their small primary habitat in all directions. Starting from the 1980s, alternative theories have been proposed that present language shift as the main scenario of the Slavic spread, emphasizing the presumed role of Slavic as the lingua franca of the Avar Khaganate. Both the migration and the language shift scenarios in their extreme forms suffer from factual and chronological inaccuracy. On the basis of some key facts about human population genetics (the relatively recent common ancestry of the East European populations), palaeoclimatology (the Late Antique Little Ice Age from 536 to around 660 CE), and historical epidemiology (the Justinianic Plague), we propose a scenario that includes a primary rapid demographic spread of the Slavs followed by population mixing and language shifts to and from Slavic in different regions of Europe. There was no single reason for the Slavic spread that would apply to the whole of the area that became Slavic-speaking. The northern West Slavic area, the East Slavic area, and the Avar sphere and South-Eastern Europe exhibit different kinds of spread: mainly migration to a sparsely populated area in the northwest, migration and language shift in the east, and a more complicated scenario in the southeast. The remarkable homogeneity of Slavic up to the jer shift is not attributable to a lingua-franca function over a great area, as is often surmised. It was a founder effect: Proto-Slavic was originally a small Baltic dialect with little internal variation, and it took time for the individual Slavic languages to develop in different directions.

There is no indication from the previous mtDNA studies that west Eurasian-specific subclades have evolved within India and played a role in the spread of languages and the origins of the caste system. To address these issues, we have screened 14,198 individuals (4208 from this study) and analyzed 112 mitogenomes (41 new sequences) to trace west Eurasian maternal ancestry. This has led to the identification of two autochthonous subhaplogroups-HV14a1 and U1a1a4, which are likely to have originated in the Dravidian-speaking populations approximately 10.5-17.9 thousand years ago (kya). The carriers of these maternal lineages might have settled in South India during the time of the spread of the Dravidian language. In addition to this, we have identified several subsets of autochthonous U7 lineages, including U7a1, U7a2b, U7a3, U7a6, U7a7, and U7c, which seem to have originated particularly in the higher-ranked caste populations in relatively recent times (2.6-8.0 kya with an average of ...

There is no indication from the previous mtDNA studies that west Eurasian-specific subclades have evolved within India and played a role in the spread of languages and the origins of the caste system. To address these issues, we have screened 14,198 individuals (4208 from this study) and analyzed 112 mitogenomes (41 new sequences) to trace west Eurasian maternal ancestry. This has led to the identification of two autochthonous subhaplogroups—HV14a1 and U1a1a4, which are likely to have originated in the Dravidian-speaking populations approximately 10.5–17.9 thousand years ago (kya). The carriers of these maternal lineages might have settled in South India during the time of the spread of the Dravidian language. In addition to this, we have identified several subsets of autochthonous U7 lineages, including U7a1, U7a2b, U7a3, U7a6, U7a7, and U7c, which seem to have
originated particularly in the higher-ranked caste populations
in relatively recent times (2.6–8.0 kya with an average
of 5.7 kya). These lineages have provided crucial clues
to the differentiation of the caste system that has occurred
during the recent past and possibly, this might have been
influenced by the Indo-Aryan migration. The remaining
west Eurasian lineages observed in the higher-ranked caste
groups, like the Brahmins, were found to cluster with populations who possibly arrived from west Asia during more
recent times.

To improve available databases of forensic interest, all Y-STR haplotypes from Kazakh population were presented in this study. The reference database accumulated almost 3650 samples from academic and citizen science. Additionally, 27 Y-STR from Yfiler Plus System were first analyzed in 300 males from Kazakh (Qazaq) populations residing in Kazakhstan. The data is available in the YHDR under accession numbers YA004316 and YA004322. A total of 270 unique haplotypes were observed. Discrimination capacity was 90%. Obtained Y-STR haplotypes exhibited a high intra-population diversity. Analysis of pairwise genetic distances showed lowest RST values from Uighur and Mongolian populations.

Heavy metals are natural component of earth and their over exploitation by man leads to anthropogenic introduction of these heavy metals in different ecosystems more or less in alarming level. In certain value they play vital role in metabolic process of living beings but when exceed from that limiting value they cause intoxication in living system. They have the tendency of bioaccumulation as well as biomagnifications within the food web in different ecosystems. Their persistence as a pollutant in air, water and soil with varying degree of concentrations to toxicity level ratio i.e. beyond regulatory limit is a matter of apprehension. In this article we have tried to describe the health issues in context of human beings related with exposure of certain heavy metals which are essential but have serious acute and chronic ill effect when consumed in different concentration frequently. Different Environmental protection agencies have their own guidelines regarding daily intake value of these heavy metals, and their intake/exposure beyond suggested regulatory limits have confirmed neurotoxic, hepatotoxic, nephrotoxic immunotoxic, teratogenic effects on human beings as well as other organisms.

This study focuses on the genetic history of the Quechua-Lamistas, inhabitants of the Lamas Province in the San Martin Department, Peru, who speak their own distinct variety of the Quechua family of languages. It has been suggested that different pre-Columbian ethnic groups from the Peruvian Amazonia, like the Motilones or " shaven heads " , assimilated the Quechua language and then formed the current native population of Lamas. However, many Quechua-Lamistas claim to be direct descendants of the Chankas, a famous pre-Columbian indigenous group that escaped from Inca rule in the Andes. To investigate the Quechua-Lamistas and Chankas' ancestries, we compared uniparental genetic profiles (17 STRs of Q-M3 Y-chromosome and mtDNA complete control region haplotypes) among autochthonous Amazonian and Andean populations from Peru, Bolivia and Ecuador. The phylogeographic and population genetic analyses indicate a fairly heterogeneous ancestry for the Quechua-Lamistas, while they are closely related to their neighbours who speak Amazonian languages, presenting no direct relationships with populations from the region where the ancient Chankas lived. On the other hand, the genetic profiles of self-identified Chanka descendants living in Andahuaylas (located in the Apurimac Department, Peru, in the Central Andes) were closely related to those living in Huancavelica and the assumed Chanka Confederation area before the Inca expansion.

Mit der  Jenaer Erklärung  meldeten sich im September 2019 erstmals Vertreter der Deutschen Zoologischen Gesellschaft (DZG) zur Frage der Realität von Menschenrassen zu Wort. Vorangegangen waren entsprechende Stellungnahmen der Gesellschaft der Humangenetiker und der Anthropologen. Die drei Gesellschaften plädierten einhellig, wenn auch mit unterschiedlichen Akzenten, für die Abschaffung des Konzepts der Menschenrassen. Die Stellungnahmen sind vor dem Hintergrund der Geschichte der drei Disziplinen besonders wichtig. Von zoologischer Seite wurde jüngst der Jenaer Erklärung jedoch widersprochen. Aktuelle Lehrbücher halten ebenfalls an der Einteilung in Menschenrassen fest. Dies ist Anlass für den vorliegenden Beitrag, der die Frage nach der Existenz von Menschenrassen präzisiert. Sie lautet: Ist die Unterteilung von Arten in „Rassen“ oder Unterarten (Subspezies) im Fall der Art  Homo sapiens  geeignet, deren genetische Vielfalt adäquat zu erfassen? Dazu werden einschlägige Argumente und Aussagen einiger Zoologen zur Unterteilung von Arten in „Rassen“ analysiert, insbesondere die Annahme, dass es gleichermaßen bei Tierarten und beim Menschen „Rassen“ gebe. Die Diskussion um die Jenaer Erklärung zeigt, dass deren Aussagen nicht alle Zoologen teilen, vielleicht nicht einmal mehrheitlich. Wegen des gesellschaftlichen Interesses an zuverlässiger biologischer Information sollen die fachlichen Ungenauigkeiten, Fehler sowie unangemessenen Folgerungen in zoologischen Werken aufgedeckt und korrigiert werden

The present study dealt with the opportunity of natural selection using Crow’s index and Johnston and Kensinger's Index among Santal women of Keonjhar, Odisha, India. Mortality index (Im), Fertility index (If) and Total Selection Intensity index (I) were analyzed among the studied population. The Crow’s total index (It) value was found to be 0.7246. The mortality (Im) component was found to be 0.5385 while the fertility (If) component was found to be 0.1846. The contribution of fertility component is greater than that of mortality component among the present studied population using Crow’s index. According to Johnston and Kesinger the total index (It) was found to be 0.8367. Fertility component was found to be 0.0885, Prenatal mortality component (Ime) and Postnatal mortality component (Ime/Pb) where observed to be 0.1356 and 0.1540, respectively. Therefore, it is clear from the results that prenatal mortality contributes higher than postnatal mortality for selection. i.e., Johnston and Kesinger’s Index (0.8367) contributes higher for the opportunity of natural selection than Crow’s Index (0.7246).

Keywords: Selection, fertility, mortality, tribe, prenatal, postnatal.

El trabajo realiza una aproximación a la situación actual de los estudios de ADN antiguo humano en Europa, recopilando los datos de los individuos analizados hasta 2013 (n=700), a modo de síntesis interpretativa continental y regional de los territorios para los cuales se han obtenido resultados significativos (Centroeuropa, Cornisa Cantábrica, Mediterráneo occidental, Escandinavia-Báltico-Rusia y Alpes orientales). Las hipótesis se expresan en términos de continuidad o discontinuidad genética entre los grupos humanos habitantes de un territorio, centradas
en la problemática de la neolitización, en una horquilla cronocultural del Paleolítico superior a la Edad del Bronce. Los resultados se resumen en (1) una preponderancia del clado mitocondrial U para muestras preneolíticas; (2) la posibilidad de una intrusión démica en una fase inicial de la neolitización centroeuropea -tipo N1a, con pérdida posterior de ese haplogrupo mitocondrial-; (3) la evidencia del proceso
neolitizador como heterogéneo y con diferente impacto a escala regional; (4) una estabilización del acervo genético europeo actual como resultado de eventos postneolíticos; y (5) las posibilidades analíticas de la genética aplicada a las poblaciones antiguas como un instrumento de gran interés, observándose la necesidad de realizar más analíticas con recorrido diacrónico.

The present work is an approach to the current status of ancient DNA studies in Europe, collecting data for analyzed individuals until 2013 (n=700), as a continental and regional interpretative synthesis for the territories with significant results (Central Europe, Cantabrian Coast, Western Mediterranean, Scandinavia-Baltic Region-Russia and Eastern Alps). The hypotheses are expressed in terms of genetic continuity or discontinuity among human groups inhabitants of a territory, being focused on the issue of neolithization, in a chronocultural span from Upper Palaeolithic to Bronze Age.
The results are summarized in (1) a prevalence of mitochondrial clade U for preneolithic samples; (2) the possibility of a demic intrusion event at an early stage of the Central European Neolithic -with types like N1a, with the subsequent loss of the mitochondrial haplogroup-; (3) evidence of the neolithization process as heterogeneous, with different regional impacts; (4) stabilization of the current European gene pool as a result of postneolithic events; and (5) the analytical possibilities of applied Genetics on the field of ancient populations as an instrument of great interest, noting the need for more analytics in a diachronic path.

Анализ данных о младенческой смертности в регионах РФ в последние десятилетия выявил новые характерные особенности в воспроизводстве народонаселения. Авторы полагают, что падение младенческой смертности является проявлением действия репро
дуктивной компенсации на популяционном уровне.
Изучено распределение фенотипических и генных часто системы α1-антитрипсина среди коренных жителей Памира, проживающих на больших высотах. Обследованные киргизы Мургаба включают в своем составе преимущественно монголоидный компонент,
население долины р.Хуф на Западном Памире антропологически относится к южным европеоидам. У киргизов (N=102) выявлены следующие частоты генов PI: M1=0.6961; M2=0.2108; M3=0.0539; Z=0.0245; I=0.0049; S=0.0049; N=0.0049; у памирцев Хуфа (N=122):
M1=0.7910; M2=0.0943; M3=0.0984; Z=0.0082; I=0.0041; S=0.0041; у памирцев Пастхуфа (N=38): M1=0.7237; M2=0.1579; M3=0.1053; Z=0.0132.Одновременное биодемографическое обследование в популяции Мургаба показало, что в браках лиц, где один из супругов является носителем редкого варианта PI, отмечено статистически значимое увеличение благоприятных исходов беременностей (снижение выкидышей и мертворождений), а также
низкое число умерших детей. Результаты свидетельствуют о возможной репродуктивной компенсации, способствующей поддержанию генетического разнообразия по генам PI.

Th e analysis of the data about infantile death rate in diff erent regions of Russian Federations last decades has revealed new prominent features in population reproduction. Authors believe that
falling of infantile death rate is display of action of reproductive compensation at population level. Th e distribution of the phenotype of α1-antitrypsin among Pamir’s aborigenes localized at high altitudes was studied. Th e Kirgizes of Murgab studied include mainly the mongoloid
component in their composition. Populations of the Khuf river in West Pamir anthropologically belong to South caucasoids. Th e following frequencies of PI genes have been registered in Kirgizes
(N=102); M1=0.6961, M2=0.2108, M3=0.0539, Z=0.0245, I=0.0049, S=0.0049, N=0.0049; in the Khuf population (N=122) M1=0.7910, M2=0.0943, M3=0.0984, Z=0.0082, I=0.0041, S=0.0041;
in the Pastkhuf population (N=38): M1=0.7237, M2=0.1579, M3=0.1053, Z=0.0132. A parallels biodemographic investigation in the Murgab population shoved that couples, with one of the
partners carrying the rare variant of PI demonstrated statistically signifi cant increase in successful outcomes of pregnancies. Th e same cohort has displayed lover infant mortality rates, the absence of miscarried fetus and stillborn babies. Our results point to the possible existence of a mechanism of reproductive compensation serving to uphold the genetic diversity of PI genes.

Several Pre-Hispanic, trans-Pacific contact hypotheses between Polynesians and indigenous South Americans have now been discussed in archeological and linguistic circles for many decades. Recent population genetic research published in Nature in 2020 strongly suggested a Pre-Hispanic Zenú-Marquesan link. This paper therefore examines the hypotheses that the Zenú population of historical northwestern Colombia actually did speak a Choco language, and that this population participated in one, single Pre-Hispanic, trans-Pacific naval contact leading to migration to and admixing with the Polynesian population of the Marquesas Islands in the 13th century. This paper therewith provides promising linguistic evidence in support of this tentative connection by detailing suggested Chocoan loanwords into the North and South Marquesan languages.

Isolation-by-distance models are part of the institutional creed of antiracialism used to critique claims of biological race concepts (BRCs). Proponents of antiracialism appeal to isolation-by-distance models to describe patterns of human genetic di ferences among and between groups as a function of distance. Isolation by distance has been referred to as the pattern that human genetic variation ts, distributing the di ferences we see as race throughout geographic space as a series of Gaussian gradients. Contemporary scienti c critiques of BRCs fuse social constructionist race concepts with a description of the distribution of proportions of human genetic variation in geographic space as a function of distance. These two points are often followed by statements noting that there is only one human race. How these two concepts connect to each other, and whether or not they connect at all, is unclear in both academic and nonacademic spaces. Consequently, scientists and the public lack an understanding of human population structure and its relationships to varying systems of human interactions. This article reviews isolation-by-distance models in population genetics and the use of these models in the modern problem of human di ference. The article presents a historical and conceptual review of isolation-by-distance models and contemporary scienti c critiques of BRCs, followed by examples of the use of isolation-by-distance models in studies of human genetic variation. To address the shortcomings in the scienti c critique of race, the author proposes combining Du Boisian demography with Darwinian evolutionary biology. From a Du Boisian demographic perspective, race is a product of racism, or race/ism, and is a heredity and inheritance system based on rules of partus sequitur ventrem and hypodescent. Race marks individuals and groups them to reproduce unequal relationships into which Europeans co-opted them. This synthesis propounds a new racial formation theory to understand the more general consequences of racism on genes and health outcomes. The greatest di culty we face is rst of all to excavate our actual history.-James Baldwin Contrary to what you may have heard or learned, the past is not done and it is not over, it's still in process, which is another way of saying that when it's critiqued, analyzed, it yields new information about itself.-Toni Morrison

Similarity between two individuals in the combination of genetic markers along their
chromosomes indicates shared ancestry and can be used to identify historical connections between
different population groups due to admixture. We use a genome-wide, haplotype-based, analysis
to characterise the structure of genetic diversity and gene-flow in a collection of 48 sub-Saharan
African groups. We show that coastal populations experienced an influx of Eurasian haplotypes
over the last 7000 years, and that Eastern and Southern Niger-Congo speaking groups share
ancestry with Central West Africans as a result of recent population expansions. In fact, most sub-
Saharan populations share ancestry with groups from outside of their current geographic region as
a result of gene-flow within the last 4000 years. Our in-depth analysis provides insight into
haplotype sharing across different ethno-linguistic groups and the recent movement of alleles into
new environments, both of which are relevant to studies of genetic epidemiology.

Seventeen Y-chromosomal short tandem repeats (STRs) were analyzed in 347 healthy, unrelated, autochthonous males from the Andalusian provinces of Huelva (N=167) and Granada (N=180). AmpFlSTR Y-filer PCR Amplification kit (Applied Biosystems) was used to type the Y-STR markers. A total of 156 and 166 different haplotypes for the 17 Y-STR set were detected in Huelva, and Granada, respectively. The same haplotype diversity was found for both samples (0.998±0.001), and the overall discrimination capacity was 0.904. The most common minimal haplotype (DYS19, DYS389 I, DYS389 II, DYS390, DYS391, DYS392, DYS393) in both subpopulations was 14-13-16-24-11-13-13, which is also the most frequent haplotype among Atlantic European populations. Comparison analysis using pairwise R(ST) values and Analysis of Molecular Variance (AMOVA) revealed a significant genetic distance between our Andalusian samples and other ones from the northern Iberian fringe (including Basque and Pyrenean populations). However, results from the multi-dimensional scaling analysis (MDS) yielded a well-defined group of Iberian populations separated from the other Mediterranean clusters observed.

The increasingly obvious medical relevance of human genetic variation
is fueling the development of a rich interface between medical genetics and the study
of human genetic history. A key feature of this interface is a step increase in the size
and diversity of genetic data sets, permitting a range of new questions to be addressed
concerning our evolutionary history. Similarly, methodologies first developed to study
genetic history are being tailored to address medical challenges, including mapping
genes that influence diseases and variable drug reactions. In this paper we do not at-
tempt a comprehensive review of human genetic history. Rather we briefly outline some
of the complications and challenges in the study of human genetic history, drawing
particular attention to new opportunities created by the explosive growth in genetic
information and technologies. First we discuss the complexity of human migration
and demographic history, taking both a genetic and archaeological perspective. Then
we show how these apparently academic issues are becoming increasingly important
in medical genetics, focusing on association studies, the common disease/common
variant hypothesis, the evaluation of variable drug response, and inferences about gene
function from patterns of genetic variation. Finally we describe some of the inferential
approaches available for interpreting human genetic variation, focusing both on current
limitations and future developments.