Racial Aura: Walter Benjamin and the Work of Art in a Biotechnological Age

Posted in Articles, Health/Medicine/Genetics, Literary/Artistic Criticism, Media Archive on 2012-03-24 20:04Z by Steven

Racial Aura: Walter Benjamin and the Work of Art in a Biotechnological Age

Literature and Medicine
Volume 26, Number 1 (Spring 2007) Special Issue: Genomics in Literature, Visual Arts, and Culture
pages 207-239
DOI: 10.1353/lm.2008.0011

Alys Eve Weinbaum, Associate Professor of English
University of Washington

[T]he meaning of racial difference is itself being changed, as the relationship between human beings and nature is reconstructed by the impact of the DNA revolution and of the technological developments that have energized it. . . . [W]e must try to take possession of that profound transformation  and somehow set it to work against the tainted logic that produced it.
Paul Gilroy, Against Race: Imaging Political Culture Beyond the Color Line

In recent years, humanists, scientists, social scientists, and the popular press have argued that race is no longer a biologically meaningful category or concept. In view of recent genetic evidence about inherited traits, scholars and pundits argue, it is clear that the collection of purported essences and phenotypic traits that we have thought about until now and referred to as racial in character cease to index significant genetic differences and thus cease to exist as meaningful biological differences. Such assertions about what may most aptly be dubbed our “post-racial” moment represent the culmination of a larger cross-disciplinary consensus produced in the wake of the eugenics movement in the early years of the twentieth-century and the subsequent genocide of World War II. As the argument goes, nothing less than a move beyond race will enable a race-obsessed society to transcend the reportedly invidious idea of race, which advocates of post-racialism regard as responsible for racism. As critical race theorists such as Michael Omi and Howard Winant explain, the contemporary racial formation is undergirded by a liberal mantra that has proven instrumental in recent decades in dismantling affirmative action and a variety of other race-based social justice programs, the mantra of so-called colorblindness.

In its current incarnation as scientific “fact,” the colorblind position gathers renewed force: a colorblind, nay post-racial society, it is now argued, is achievable by subjecting the idea of race to the blinding light of genetic reason, or perhaps more accurately to gel electrophoresis, the laboratory protocol used to process DNA fragments so that they may be sequenced and analyzed. Indeed, ever since the announcement of the completion of the map of the human genome in June 2000, the case against race more often than not is presented in genetic terms and as definitively closed. As a headline in the New York Times rhetorically queried as early as August 2000, “Do Races Differ? Not Really Genes Show.” By 2003, Scientific American saw fit to announce on its cover that “Science Has the Answer” to the age-old conundrum of racial difference: race has no genetic basis. What concerns me in this article is that even as the hegemony of a colorblind racial project currently being expressed as a post-racial euphoria holds sway, the dominant understanding of race, newly energized by genomics, exists side by side with a culture that continues to renew its commitment to the idea of race through its practice of biotechnology…

…Currently, far from having transcended ideas about the reproducibility of race as a biological essence, we are witnessing consolidation of such ideas through their deepened geneticization and commodification. In infrequent cases in which white women have elected to use sperm from men of different races, their pursuit and purchase of exotic commodities can (though does not always) auger the infinite variety of forms that racism can and does take. Such wayward racial selections are expressly intended to produce interracial children, a (re)productive practice that is ultimately no more or less race conscious than that which aims to create a perfect “racial match.” In fact, even in those cases in which lesbian or queer interracial couples elect to produce mixed race children “reflective” of the racial composition of their relationships, we witness yet one more of the infinite forms that contemporary racial fetishism may take. In the case of surrogacy, when surrogates gestate embryos comprised of their own ova, their services and bodily materials become indistinguishable, and surrogates are thus selected by consumers based on the projected racial and phenotypic outcomes that the surrogates’ employment will enable. Conversely, as anthropologist, Heléna Ragoné demonstrates, in instances in which surrogates gestate unrelated genetic material, the racial differences between the surrogate and social parents are deemed less relevant. Far from contravening the dominant social belief in the genetics of race, this practice only further suggests its power: the race of the surrogate becomes inconsequential when she is reduced to a laboring body, a womb for sale. Once again, the racial connections that count are those that produce the veneer of racial continuity across generations. Apparently, in the context of a supposedly post-racial free market in genetic materials and reproductive services, even multicultural forms of reproductive reciprocity are fraught with eugenic undertones…

…II. Racial Aura

The idea that the same technologies that might potentially be used for liberatory, even anti-racist ends can and are all too often used to maintain oppressive social hierarchies is one whose examination has historical precedent in the 1930s. Amidst the rise of the Third Reich and just prior to the imposition of genocidal Nazi eugenic policies implemented in the name of “racial hygiene” and “race improvement,” Marxist theorist Walter Benjamin sought to understand how the new technologies of reproduction by which he was surrounded were altering both human sense perception and political consciousness. Although Benjamin’s now famous essay, “The Work of Art in the Age of Mechanical Reproduction,” examined film and photography and could not possibly have accounted for ARTs [assisted reproductive technologies] as they exist today, in this section I explore how and why Benjamin’s analysis of the cultural and ideological effects of the reproductive technologies by which he was surrounded is relevant to the analysis of the biotechnologies by which we are surrounded in our supposedly post-racial age. Although we can limn the paradox that confronts us—the simultaneous insistence on the obsolescence of race and the accelerated practice of racial distinction through the use of biotechnology—in order to theorize this paradox and, as importantly, to understand how it produces an array of cultural and ideological effects that alter our perception of race, reproduction, and kinship, a return to Benjamin is both timely and politically useful….

…In these and all his other portraits of the court, Lee’s racialized and animalized images put racial aura on display in the form of nineteenth century “scientific” ideas about hybridization and destruction of “purity” of form. In this way Lee’s images indicate the extent to which all modern discussions of hybridity are intrinsically racialized, whether or not race is explicitly foregrounded, for, by the middle of the nineteenth century, ideas about mixed progeny as “degenerate” and about “degeneration” as a consequence of “devolution” to a more animalized and, thus, less “civilized” and less “human” state were commonplace. Indeed, Lee’s work reminds us that in the largely uncontested “racial science” of the nineteenth century (that which preceded Davenport’s eugenic theories and from which he borrowed), ideas about racial mixing were sifted through ideas about the hybridization of species—human and non-human animals—such that interspecism and interracialism were virtually interchangeable. This was an especially powerful conflation in contexts such as American racial slavery, in which black people were regarded as less than fully human, as animal chattel. As the etymology of the term “Mulatto” indicates, rooted as it is in the word mule, the progeny of wayward reproductions across racial lines have a long history of portrayal as sterile beings, inferior blends of incompatible parts, be they donkey and horse or white and black.

In Lee’s images the monstrosity of mixture realizes its most robust expression in cross-species human/non-human animal mixture. However, lest the contemporary genomic resonance of Lee’s human/non-human animal hybrids be overlooked by viewers, in the gallery space in which Lee’s Judgment series was on display, his work was juxtaposed by curators with Catherine Chalmer’s photographic series Transgenic Mice [See Figure 4]. Chalmer’s portraits of creatures such as “Obese Mouse” and “Rhino Mouse,” blown-up so they appear the size of toddlers, depict actual scientific specimens produced by combining human DNA with mouse DNA. Such mice are used in research on a variety of human diseases, with the most well known one, “Onco-Mouse,” developed to study cancer. Although race is nowhere apparent in the manifest content of Chalmer’s images, the juxtaposition of Lee’s and Chalmer’s hybrids produces a synergy that racializes the mice and simultaneously geneticizes the hybrids that comprise Lee’s court. In other words, when brought together, Lee’s court and Chalmer’s mice manifest racial aura in the form of overlapping conceptions of mixture as monstrosity. By grabbing our attention and fascinating our gaze, these very different portraits collude to reveal the origin of the freakishness they depict in a combination of old, supposedly outmoded ideas about racial mixture and very contemporary ideas of transgenics—and this is the case, even as the post-racial consensus is consolidated by the genetic science that tells us that race does not exist…

Read the entire article here.

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S.66, the Native Hawaiian Health Care Improvement bill in the 112th Congress — Reauthorizing an ineffective but socially dangerous pork-barrel waste of taxpayer dollars

Posted in Articles, Health/Medicine/Genetics, Law, Media Archive, Politics/Public Policy, United States on 2012-03-24 19:25Z by Steven

S.66, the Native Hawaiian Health Care Improvement bill in the 112th Congress — Reauthorizing an ineffective but socially dangerous pork-barrel waste of taxpayer dollars

Hawaii Reporter
2011-03-07

Kenneth R. Conklin, Ph.D.

S.66 is a bill in the 112th Congress entitled “The Native Hawaiian Health Care Improvement Act,” introduced by Senator Dan Inouye on January 15, 2011. At the end of February the bill had no cosponsors—not even the figurehead champion of ethnic Hawaiians, Senator Dan Akaka.
 
The bill’s stated purpose is to re-authorize and expand previous legislation going back to 1988 which established Papa Ola Lokahi, the federally-funded ethnic Hawaiian healthcare system—one of the largest racially exclusionary programs for the benefit of ethnic Hawaiians. (There are more than a thousand Hawaiians-only programs; see “references”).
 
A hidden purpose of S.66 is to restate and enshrine language from the apology resolution of 1993 and the failed Akaka bill of 2000 to 2010. S.66 would thereby bolster the claim that the federal government already recognizes ethnic Hawaiians as an Indian tribe, thus strengthening legal defenses against 14th Amendment challenges to Hawaii’s plethora of racial entitlement programs…

…Some defenders of race-based medicine assert that ethnic Hawaiians are a unique people with unique social customs requiring a culture-based medical delivery system. But nearly all ethnic Hawaiians are of mixed race. They live, work, play, and pray right next to people of other races in Hawaii’s fully integrated multicultural society. Assimilated people don’t have unique social needs as a group, and should not be racially profiled or stereotyped that way. Hawaii has many first, second, or third generation U.S. citizens from countries which do indeed have very different cultures; but there are no demands for federally funded race-based or culture-based healthcare systems to serve them…

Read the entire opinion piece here.

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Are medical and nonmedical uses of large-scale genomic markers conflating genetics and ‘race’?

Posted in Articles, Health/Medicine/Genetics, Media Archive, Politics/Public Policy on 2012-03-24 03:04Z by Steven

Are medical and nonmedical uses of large-scale genomic markers conflating genetics and ‘race’?

Nature Genetics
Volume 36, Number 11s (2004)
pages S43-S47
DOI: 10.1038/ng1439

Charles N. Rotimi, Director
Center for Research on Genomics and Global Health

“…with each birth and each death we alter the genetic attributes of human populations and drawing a line around an ephemeral entity like a human race is an exercise in futility and idiocy.” —Pat Shipman, The Evolution of Racism

We now have the tools to describe the pattern of genetic variation across the whole genome and its relationship to the history of human origins and the differential distribution of diseases across populations and geography. We can begin to dissect common complex diseases and devise new therapeutic strategies to reduce adverse drug reactions, a key public health problem ranking between the fourth and sixth leading cause of death in the US. At the social level, the new genomic tools can help us to better appreciate the fluidity of social identity, including ‘race’, ‘ethnicity’ and the more complex notion of ancestry. Challenges surrounding the design of large-scale genotyping projects such as the international HapMap initiative and their future applications illustrate the complexities and ambiguities associated with the use of group labels in genomic research. Depending on how we use this information, the potential exists to describe simultaneously our similarities and differences without reaffirming old prejudices…

…Genetic variation and social identity

To reap the full benefits of the Human Genome Project and spin-offs like the HapMap project, we must be willing to move beyond old and simplistic interpretations of differential frequencies of disease variants by poorly defined social proxies of genetic relatedness like ‘race’. We should allow the genome to teach us the extent of our evolutionary history without abbreviating it with preconceived notions of population boundaries and social identities. We must recognize that social identities are formed in various ways—ancestry, ethnic and tribal background, geopolitical boundaries, language, and other social and behavioral activities. Identities change over time and from one context to another. Their use as markers of ‘relatedness’ in genetic research without appreciation for how they were formed is likely to produce misleading information concerning the distribution of genetic variation.

We all have a common birthplace somewhere in Africa and this common origin is the reason why we share most of our genetic information. Our common history also explains why contemporary African populations have more genetic variation than younger human populations that migrated out of Africa 100,000 years ago to populate other parts of the world, carrying with them a subset of the existing genetic information.

Given this shared history, why do we interpret human genetic variation data as though our differences rise to the level of subspecies? Two facts are relevant: (i) as a result of different evolutionary forces, including natural selection, there are geographical patterns of genetic variations that correspond, for the most part, to continental origin; and (ii) observed patterns of geographical differences in genetic information do not correspond to our notion of social identities, including ‘race’ and ‘ethnicity’. In this regard, no matter what categorical framework is applied, we cannot consistently use genetics to define racial groups without classifying some human populations as exceptions. Our evolutionary history is a continuous process of combining the new with the old, and the end result is a mosaic that is modified with each birth and death. This is why the process of using genetics to define ‘race’ is like slicing soup: “You can cut wherever you want, but the soup stays mixed”.

How can we grasp the population structure of our species? I believe this requires universal awareness that genomic information cannot be used either to confirm or to refine old social, political and economic classifications such as ‘race’. In particular, we should understand the following points: (i) individuals in genetics studies may have membership in more than one biogeographical clusters; (ii) the borders of these clusters are not distinct; and (iii) population clusters are influenced by sampling strategies. For example, the inference drawn from a study with one or two African populations will probably be very different from that drawn from a study with 100 African populations sampled from north, east, west, central and south Africa. As Steve Olson observed, “Not only do all people have the same set of genes, but all groups of people also share the major variants of those genes. Geneticists have never found a genetic marker that is of one type in all the members of one large group and of a different type in all the members of another large group”50. Furthermore, because most alleles are widespread, genetic differences among human populations are the result of gradations in allele frequencies rather than distinctive diagnostic genotypes…

Read the entire perspective here.

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Changing the paradigm from ‘race’ to human genome variation

Posted in Articles, Health/Medicine/Genetics, Media Archive on 2012-03-24 02:33Z by Steven

Changing the paradigm from ‘race’ to human genome variation

Nature Genetics
Volume 36, Number 11s (2004)
pages S5-S7
DOI: 10.1038/ng1454

Charmaine D. M. Royal, Associate Research Professor
Institute for Genome Sciences & Policy; Department of African and African American Studies
Duke University

Georgia M. Dunston, Founding Director, National Human Genome Center
Howard University

Knowledge from the Human Genome Project and research on human genome variation increasingly challenges the applicability of the term ‘race’ to human population groups, raising questions about the validity of inferences made about ‘race’ in the biomedical and scientific literature. Despite the acknowledged contradictions in contemporary science, population-based genetic variation is continually used to explain differences in health between ‘racial’ and ‘ethnic’ groups. In this commentary we posit that resolution of apparent paradoxes in relating biology to ‘race’ and genetics requires thinking ‘outside of the box’.

Introduction to the state of the science

Knowledge gained from the Human Genome Project and research on human genome variation is forcing a paradigm shift in thinking about the construct of ‘race’, much like the process described by Thomas Kuhn in his renowned book, The Structure of Scientific Revolutions. Kuhn describes the paradigm shift in science as occurring when anomalous, scientific results cannot be explained by inadequate methods. With an accumulation of such anomalies, scientists must begin to consider that the paradigm or model of reality under which the hypotheses are tested has shifted and is no longer valid. Today, scientists are faced with this situation in genomics, where existing biological models or paradigms of ‘racial’ and ‘ethnic’ categorizations cannot accommodate the uniqueness of the individual and universality of humankind that is evident in new knowledge emerging from human genome sequence variation research and molecular anthropological research. The paradigms of human identity based on ‘races’ as biological constructs are being questioned in light of the preponderance of data on human genome sequence variation and reflect the need for a new explanatory framework and vision of humankind with different fundamental assumptions about biological groups that can accommodate new knowledge from a new generation of research.

Discourse on the validity of ‘racial’ categorization in humans is certainly not new and will perhaps continue for generations to come, taking on various forms as new scientific and nonscientific knowledge emerges. Shifts have occurred over time from a purely anthropological or biological debate to conversations about numerous psychosocial, societal, ethical and legal ramifications indicative of the undeniable applicability of the topic of ‘race’ to virtually every aspect of human existence.

This commentary describes the intellectual climate under which new information from human genome research is introduced into twenty-first-century biomedical science and society, new information that forces a more integrative construct of human biology and disease. The discordance between ‘race’ and human genome variation sets the stage for an analysis of the state of the science on human genome variation and ‘race’ and the relationship between genome variation and population differences in health and disease. The paper also provides a brief background for, and overview of, this Supplement to Nature Genetics

…As previously indicated, much of the current literature on genetics and health disparities emphasizes the potential dangers of connecting genetics with disparities, and relatively little research has been directed towards the potential of genomics to further understand health disparities in ways that can accomplish the US public health objectives of Healthy People 2010: a long and healthy life for all and the elimination of health disparities. Conditions are prime for the application of knowledge gained from research on the structure of DNA sequence variation in African and African Diaspora populations to probe the influence of gene-environment interactions in race- and ethnicity-based health disparities. With plans underway for the Translational Genomics Research in the African Diaspora initiative, the NHGC is positioned to lead the US and the global community with a large-scale, interdisciplinary project for human genome research in the African Diaspora. Translational Genomics Research in the African Diaspora will be a population-based resource for translational genomics in clinical research, which capitalizes on the evolutionary and migration history of Africans and the African Diaspora, and a resource for dissecting the contributions of gene-environment interactions (environment broadly defined to include psychosocial, cultural and other subjective factors) to disease susceptibility and response to medicines…

Read the entire commentary here.

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Grassroots Marketing in a Global Era: More Lessons from BiDil

Posted in Articles, Health/Medicine/Genetics, Media Archive, Politics/Public Policy, United States on 2012-03-24 02:07Z by Steven

Grassroots Marketing in a Global Era: More Lessons from BiDil

The Journal of Law, Medicine & Ethics
Volume 39, Issue 1, Spring 2011
pages 79–90
DOI: 10.1111/j.1748-720X.2011.00552.x

Britt M. Rusert, External Humanities Fellow
Center for the Humanities
Temple University

Charmaine D. M. Royal, Associate Research Professor
Institute for Genome Sciences & Policy; Department of African and African American Studies
Duke University

BiDil, a heart failure drug for African Americans, emerged five years ago as the first FDA approved drug targeted at a specific racial group. While critical scholarship and the popular media have meticulously detailed the history of BiDil from its inauspicious beginnings as a generic combination drug for the general population to its dramatic resuscitation as a racial medicine, the enthusiastic support shown by some African American interest groups has been too little understood, as has their argument that BiDil was an important response to race-based health disparities. In this essay, we show how the drugmaker, NitroMed, used the support it had solicited from black advocacy groups and community members to market BiDil as a unique “grassroots” pharmaceutical to the African American community. We go on to situate BiDil, which relied on a domestic, U.S.-centered conception of race, within the context of the global nature of both race and health disparities. Ironically, the grassroots angle of the BiDil case ultimately obscured the global crisis in health disparities. Furthermore, we argue that the grassroots model initiated by NitroMed should be taken note of, as it marks a potential avenue for the marketing of other drugs in the future.

Read the entire article here.

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Is Race-Based Medicine Good for Us?: African American Approaches to Race, Biomedicine, and Equality

Posted in Articles, Health/Medicine/Genetics, Media Archive, Politics/Public Policy, United States on 2012-03-24 01:39Z by Steven

Is Race-Based Medicine Good for Us?: African American Approaches to Race, Biomedicine, and Equality

The Journal of Law, Medicine & Ethics
Volume 36, Issue 3, September 2008
pages 537–545
DOI: 10.1111/j.1748-720X.2008.302.x

Dorothy Roberts, George A. Weiss University Professor of Law and Sociology; Raymond Pace and Sadie Tanner Mossell Alexander Professor of Civil Rights
University of Pennsylvania

This article presents a preliminary framework for exploring the intersection of science and racial politics in the public debate about race-based pharmaceuticals, especially among African Americans. It examines the influence of three political approaches to race consciousness on evaluations of racial medicine and offers an alternative critique.

Read or purchase the article here.

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Identity Politics and the New Genetics: Re/Creating Categories of Difference and Belonging

Posted in Anthologies, Anthropology, Books, Caribbean/Latin America, Europe, Health/Medicine/Genetics, History, Identity Development/Psychology, Media Archive, Politics/Public Policy, Social Science, United Kingdom on 2012-03-18 03:04Z by Steven

Identity Politics and the New Genetics: Re/Creating Categories of Difference and Belonging

Berghahn Books
January 2012
226 pages
tables & figs, bibliog., index
Hardback ISBN: 978-0-85745-253-5

Edited by:

Katharina Schramm, Senior Lecturer of Social Anthropology
Martin-Luther-University Halle-Wittenberg

David Skinner, Reader in Sociology
Anglia Ruskin University, United Kingdom

Richard Rottenburg, Professor Social Anthropology
Martin-Luther-University Halle-Wittenberg

Racial and ethnic categories have appeared in recent scientific work in novel ways and in relation to a variety of disciplines: medicine, forensics, population genetics and also developments in popular genealogy. Once again, biology is foregrounded in the discussion of human identity. Of particular importance is the preoccupation with origins and personal discovery and the increasing use of racial and ethnic categories in social policy. This new genetic knowledge, expressed in technology and practice, has the potential to disrupt how race and ethnicity are debated, managed and lived. As such, this volume investigates the ways in which existing social categories are both maintained and transformed at the intersection of the natural (sciences) and the cultural (politics). The contributors include medical researchers, anthropologists, historians of science and sociologists of race relations; together, they explore the new and challenging landscape where biology becomes the stuff of identity.

Contents

  • List of Illustrations and Tables
  • Acknowledgments
  • Introduction: Ideas in Motion: Making Sense of Identity After DNA; Katharina Schramm, David Skinner, Richard Rottenburg
  • Chapter 1. ‘Race’ as a Social Construction in Genetics; Andrew Smart, Richard Tutton, Paul Martin, George Ellison
  • Chapter 2. Mobile Identities and Fixed Categories: Forensic DNA and the Politics of Racialised Data; David Skinner
  • Chapter 3. Race, Kinship and the Ambivalence of Identity; Peter Wade
  • Chapter 4. Identity, DNA, and the State in Post-Dictatorship Argentina; Noa Vaisman
  • Chapter 5. ‘Do You Have Celtic, Jewish, Germanic Roots?’ – Applied Swiss History Before and After DNA; Marianne Sommer
  • Chapter 6. Irish DNA: Making Connections and Making Distinctions in Y-Chromosome Surname Studies; Catherine Nash
  • Chapter 7. Genomics en route: Ancestry, Heritage, and the Politics of Identity Across the Black Atlantic; Katharina Schramm
  • Chapter 8. Biotechnological Cults of Affliction? Race, Rationality, and Enchantment in Personal Genomic Histories; Stephan Palmié
  • Notes on Contributors
  • Bibliography
  • Index
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The Founder Effect and Deleterious Genes

Posted in Anthropology, Articles, Health/Medicine/Genetics, History, Media Archive, Tri-Racial Isolates, United States on 2012-03-16 02:35Z by Steven

The Founder Effect and Deleterious Genes

American Journal of Physical Anthropology
Volume 30, Issue 1 (January 1969)
pages 55-60
DOI: 10.1002/ajpa.1330300107

Frank B. Livingstone (1928-2005), Professor Emeritus of Biological Anthropology
University of Michigan

During the rapid growth of a population from a few founders, a single deleterious gene in a founder can attain an appreciable frequency in later generations. A computer simulation, which has the population double itself in early generations, indicates a lethal could attain a frequency of 0.1. Since deleterious recessive genes are eliminated from large populations at a very slow rate, variations in their frequencies in present major human populations may be due to the founder effect during earlier rapid expansion.

Many distinctive human populations are characterized by the presence of one or more lethal or severely deleterious genes in frequencies which would be defined as polymorphic according to Ford’s (’40) famous definition. The particular genetic disorder, however, varies. The Old Order Amish of Lancaster County, Pennsylvania have a gene frequency of 0.07 for the recessive Ellis-van Creveld syndrome, while the Amish as a whole have a frequency of about 0.05 of the recessive cartilage-hair hypoplasia syndrome ( McKusick et al., ’64). Many of the tri-racial isolates of Eastern United States also have a high frequency of a deleterious gene (Witkop et al., ’66). Although such populations are frequently defined by religious or ethnic criteria, there are others not so defined. Several island populations in the Åland archipelago have a gene frequency of greater than 0.1 for von Willebrand’s disease (Eriksson, ’61), and the Boer population of South Africa and some populations of Northern Sweden have frequencies of porphyria much greater than those of other populations (Dean, ’63; Waldenstrom and Haeger-Aronsen, ’67). However, these conditions are dominant and do not have the very severe effects of other hereditary disorders found in high frequencies. On the other hand the population of the Chicoutimi District of Quebec has recently been found to have a gene frequency of about 0.02 for tyrosinemia, which is a lethal recessive (Laberge and Dallaire, ’67).

In most of these cases the population in question has undergone a rapid increase in recent years, and the question arises as to whether this rapid expansion and the original small size of the isolate could account for the high frequency of the deleterious gene. Such an explanation by the founder effect seems obviously to apply to most of the cases cited above, but the founder effect may well be a more general explanation of human gene frequency differences. It is now becoming apparent that the major populations of mankind vary significantly in their frequencies of deleterious genes and that many large populations such as Eastern European Jews have high frequencies of deleterious genes which are found in low frequencies in other populations McKusick, ’66). There have been many attempts to determine how such genes could be polymorphic, for example, Anderson et al. (’67) and Knudson et al. (’67) have discussed cystic fibrosis and Myrianthopoulos and Aronson (’66), Tay-Sachs disease. The purpose of this paper is to attempt to determine the extent to which the founder effect can cause high frequencies of deleterious genes with various models of population expansion.

The occurrence which initiated this research is the gene for sickle cell hemoglobin in the Brandywine isolate of Southeast Maryland. At present the sickle cell gene frequency in this isolate is about 0.1 (Rucknagel, ’64). The high frequencies of this gene in many parts of Africa, India, and the Middle East are now well-accepted as being due to a relative resistance of the sickle cell heterozygote to falciparum malaria. The high frequency in the Brandywine isolate may have a similar explanation, but the surrounding Negro population does not have such a high frequency. And although the endemicity of falciparum malaria in Southeast Maryland in the last century is not known in any detail, it would not appear to have been great enough to explain the high sickle cell frequency in the Brandywine isolate. The isolate also has many other deleterious genes in high frequency (Witkop et al., ’66).

The Brandywine isolate seems to have had its beginning in the early Eighteenth Century when laws were passed to prohibit co-habitation and marriage among races, which prior to then were presumably frequent or at least known. Up to 1720 there were several prosecutions under these laws of individuals with surnames currently present in the isolate (Harte, ’63). Harte (’63) has maintained that the Brandywine isolate is derived from these illegal unions, and Witkop et al. (‘66) show that the most common surname came from such a union. In 1790 the first United States Census recorded 190 persons with the group’s surnames as “other free people,” and since then over 90% of the recorded marriages have been endogamous or between individuals with surnames within the group (Harte, ’59). According to Harte (’59) there are six “core” surnames which have been associated with the group since its founding and comprise 66% of the population and another ten surnames which entered the group after the Civil War, but Witkop et al. (‘66) list seven core surnames and eight marginal ones. The total population of the isolate is now estimated to be 5,128 (Witkop et al., ’66), and the statistics do indicate rapid, if erratic, growth (Gilbert, ’45; Harte, ’63)…

Read the entire article here

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Treating a medical mosaic, doctors develop a new appreciation for the role of ethnicity in disease

Posted in Articles, Asian Diaspora, Canada, Health/Medicine/Genetics, Media Archive on 2012-03-12 03:53Z by Steven

Treating a medical mosaic, doctors develop a new appreciation for the role of ethnicity in disease

The Globe and Mail
Toronto, Canada
2012-02-15

Dakshana Bascaramurty, Reporter

Baby X is born in a Canadian hospital and her tiny, wrinkled body is placed on a scale that reads 3,061 grams, or 6 pounds and 12 ounces.

Things can go one of two ways for Baby X, whose parents are immigrants from India.

According to the standard birth-weight curves used in Canada, which are modelled after norms for Caucasian newborns, this baby could be labelled as underweight, a classification that comes with a higher risk of death and lower cognitive ability. She could be subjected to a battery of unnecessary tests and follow-ups. Her concerned mother might overfeed her in hopes of speeding up her growth.

Or, if a new birth-weight curve developed at Toronto’s St. Michael’s Hospital – one that takes into account a wide range of ethnicities – is used, Baby X will be classified as having a perfectly normal weight and will be sent home. South Asian newborns are typically smaller than those of many other ethnicities.

It’s just one example of why there is a move in Canada and other countries to collect data on their diverse populations to deliver better patient care.

Doctors and researchers are putting greater stock in ethnicity as a variable in health outcomes. A large body of research suggests certain groups are at a higher genetic risk for particular diseases. And physiologically, what is accepted as “normal” and “healthy” varies between ethnicities.

But there are no universal standards or terms of reference used to classify ethnicity, which has made it a highly fraught subject. Some say it shouldn’t be considered a variable at all, arguing that the link between ethnicity and health is manufactured. The Canadian Institute for Health Information doesn’t collect data on ethnicity, and the Canadian Medical Association has no formal policy on the best way to classify the diverse backgrounds of Canadians.

Joel Ray, who led the St. Michael’s Hospital team that developed the new newborn birth-weight curve, is baffled that an old model developed in 1969 based on the weights of 300 Caucasian newborns in Montreal – a population unreflective of modern Canada – is still used in some parts of the country. In a study published Wednesday in the Journal of Obstetrics and Gynaecology Canada, his team analyzed 760,000 live births in Ontario and, by their measure, more than one in 10 South Asian babies was at risk of being misclassified if one of the standard Canadian birth-weight curves was used.

“They’re completely archaic – there’s no other sweet word for it,” Dr. Ray said.

Dr. Ray previously studied rates of gestational diabetes among women of various ethnic groups and found South Asians had the highest risk levels, followed by those from East Asia and the Middle East. Previous studies have lumped these three groups together under the catch-all category “Asian” – missing the heterogeneity within.

“You may as well call them human if you’re going to call someone Asian,” he said…

Read the entire article here.

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Population structure and admixture in Cerro Largo, Uruguay, based on blood markers and mitochondrial DNA polymorphisms

Posted in Anthropology, Articles, Caribbean/Latin America, Health/Medicine/Genetics, Media Archive on 2012-03-04 18:29Z by Steven

Population structure and admixture in Cerro Largo, Uruguay, based on blood markers and mitochondrial DNA polymorphisms

American Journal of Human Biology
Volume 18, Issue 4 (July/August 2006)
pages 513–524
DOI: 10.1002/ajhb.20520

Mónica Sans
Departamento de Antropología Biológica, Facultad de Humanidades y Ciencias de la Educación
Universidad de la República

D. Andrew Merriwether
Department of Anthropology
Binghamton University, Binghamton, New York

Pedro C. Hidalgo
Laboratorio de Inmunogenética e Histocompatibilidad
Instituto Nacional de Donación y Trasplante de Células, Organos y Tejidos
Hospital de Clínicas “Manuel Quintela”

Nilo Bentancor
Laboratorio de Inmunogenética e Histocompatibilidad
Instituto Nacional de Donación y Trasplante de Células, Organos y Tejidos
Hospital de Clínicas “Manuel Quintela”

Tania A. Weimer
Laboratório de Biotecnologia Veterinária
Universidade Luterana do Brasil

Maria Helena L.P. Franco
Departamento de Genética, Instituto de Biociências
Universidade Federal do Rio Grande do Sul

Inés Alvarez
Laboratorio de Inmunogenética e Histocompatibilidad
Instituto Nacional de Donación y Trasplante de Células, Organos y Tejidos
Hospital de Clínicas “Manuel Quintela”

Brian M. Kemp
Department of Anthropology
University of California, Davis

Francisco M. Salzano
Departamento de Genética, Instituto de Biociências
Universidade Federal do Rio Grande do Sul

Recent studies of the Uruguayan population revealed different amounts of Amerindian and African genetic contributions. Our previous analysis of Afro-Uruguayans from the capital city of the Department of Cerro Largo showed a high proportion of African genes, and the effects of directional mating involving Amerindian women. In this paper, we extended the analysis to a sample of more than 100 individuals representing a random sample of the population of the whole Department. Based on 18 autosomal markers and one X-linked marker, we estimated 82% European, 8% Amerindian, and 10% African contributions to their ancestry, while from seven mitochondrial DNA site-specific polymorphic markers and sequences of hypervariable segment I, we determined 49% European, 30% Amerindian, and 21% African maternal contributions. Directional matings between Amerindian women and European men were detected, but differences involving Africans were not significant. Data about the specific origins of maternal lineages were also provided, and placed in a historical context.

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