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12 - Demic expansion or cultural diffusion: migration and Basque origins
- Edited by Michael H. Crawford, University of Kansas, Benjamin C. Campbell, University of Wisconsin, Milwaukee
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- Book:
- Causes and Consequences of Human Migration
- Published online:
- 05 December 2012
- Print publication:
- 08 November 2012, pp 224-249
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Summary
Introduction
This chapter examines the possible ramifications of migration (Paleolithic versus Neolithic) on the mitochondrial gene pool of Europe. In the anthropological literature, there has been much debate on the relative contributions of Paleolithic and Neolithic populations to modern Europeans; a debate which continues to center around two competing models (Balaresque et al., 2010; Battaglia et al., 2009; Sjodin and Francois, 2011). The Neolithic demic diffusion model (DDM) holds that the majority of genetic variation found in modern Europeans is the result of bands of migrating farmers spreading their technology (and genes) into Europe with the advent of agriculture (Ammerman and Cavalli-Sforza, 1984). Alternatively, the cultural diffusion model (CDM) asserts that agricultural knowledge spread into Europe 10 000 years ago but people did not, so the transfer of technology occurred without migration and the gene pool of modern Europeans is primarly of non-Neolithic origin (Novelletto, 2007).
Genetic evidence has been used to support both models. A southeast to northwest cline in the distribution of classical markers across Europe has been interpreted as a genetic signature of the DDM model (Cavalli-Sforza et al., 1994). Similar clines have been noted for other molecular systems and interpreted as evidence of “directional population expansion” (Casalotti et al., 1999; Chikhi et al., 1998:9055). Advocates of the cultural diffusion model maintain that the Paleolithic expansion into Europe occurred from the same region as the Neolithic expansion, so that the cline in genetic variation might reflect a Paleolithic signal (Barbujani et al., 1998). Y-chromosome analyses reveal that haplotype R1*M173 appears to indicate an expansion event after the Last Glacial Maximum (Wells et al., 2001), and a “high degree of non-Neolithic ancestry” in populations of Iberia (Flores et al., 2004). Examination of Y-chromosome diversity in southeastern Europe suggests that the spread of agriculture overlaps with the expansion of indigenous European haplogroup I*M423 (Battaglia et al., 2009).
Chapter 10 - Emerging Technologies: The Bright Future of Fluorescence
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- By Eric J. Devor, Integrated DNA Technologies
- Edited by Michael H. Crawford, University of Kansas
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- Book:
- Anthropological Genetics
- Published online:
- 05 June 2012
- Print publication:
- 30 November 2006, pp 277-305
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Summary
Introduction
Oligonucleotide-driven, polymerase-catalyzed in vitro molecular reactions, specifically the polymerase chain reaction (PCR) and chain-termination DNA sequencing, have revolutionized our access to and understanding of genetics. Born less than three decades ago, these two techniques have together led to the phenomena of whole-genome sequencing, mass gene expression analyses, high-throughput drug discovery, and ‘disease-of-the-week’ mutation mapping – to name but a few. Major players in these advances range from the very small, like the bacterium Thermus aquaticus, that gave us thermal-stable DNA polymerase, to almost larger than life, like H. Gobind Khorana, under whose guidance the basic chemistries of oligonucleotide synthesis were developed. No less important is the smallest player of all, the fluorescent molecule. Appreciation for the potential of fluorescence as a tool in molecular biology pre-dates the advent of both chain-termination DNA sequencing and PCR, but it is only in the past few years that specific applications have begun to flower and pay huge dividends.
In this chapter I will present the basics of fluorescence relevant to molecular biology, including fluorescence resonance energy transfer (FRET). From there, the three applications in which fluorescence has made a significant contribution will be discussed. These are: chain-termination DNA sequencing, kinetic (real-time) PCR, and DNA microarrays. Finally, I will assess the role of fluorescence-aided molecular tools in Anthropological Genetics in the future as well as preview potential new fluorescence tools on the horizon.
III.1 - Genetic Disease
- from Part III - Medical Specialties and Disease Prevention
- Edited by Kenneth F. Kiple, Bowling Green State University, Ohio
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- Book:
- The Cambridge World History of Human Disease
- Published online:
- 28 March 2008
- Print publication:
- 29 January 1993, pp 111-126
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Summary
The idea that a particular physical feature, either normal or abnormal, is hereditary is probably as old as our species itself. However, as has been noted by many other writers, tracing the origins of an idea is a formidable, if not impossible, task. Clearly, the concept of “like begets like” found a practical expression in the early domestication of animals; breeding stock was chosen on the basis of favorable traits. The first tangible evidence that human beings had at least a glimmer of the notion of heredity can be found in the domestication of the dog some 10,000 years ago. Yet it is only in the past 100 years that we have begun to understand the workings of heredity.
This essay traces the development of the concept of heredity and, in particular, shows how that development has shed light on the host of hereditary and genetic diseases we have come to recognize in humans. It begins with a brief discussion of some basic concepts and terms, which is followed by an outline of the heuristic model of genetic transmission that has come to be the standard of modern medical genetics. Once this groundwork is in place, the history of the study of human genetic disease is developed from the earliest records, through the birth of medical genetics, to the molecular era. Naturally, a detailed narrative of this history would require several volumes. Therefore, some events and ideas have been omitted or treated only cursorily.
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