Thesis (Ph. D.)--University of Chicago, Dept. of Ecology and Evolution, June 2000. / Includes bibliographical references. Also available on the Internet.

Thesis (Ph. D.)--University of Illinois at Urbana-Champaign, 1988. / Vita. Includes bibliographical references (leaves 134-153).

Thesis (Ph. D.)--Pennsylvania State University, 1998. / Vita. Includes bibliographical references.

Thesis (M.A. in anthropology)--Washington State University, May 2010. / Title from PDF title page (viewed on May 11, 2010). "Department of Anthropology." Includes bibliographical references (p. 51-57).

This document only includes an excerpt of the corresponding thesis or dissertation. To request a digital scan of the full text, please contact the Ruth Lilly Medical Library's Interlibrary Loan Department (rlmlill@iu.edu). / The distribution of variants of fourteen genetic and fourteen cytogenetic markers is investigated in samples from two Bedouin tribes, the Ajman (n = 52) and the Suluba (n = 52) and from the general population of Kuwait (n = 89). Typical of the many tribal populations in the Arabian peninsula, both Ajman and Suluba are socially isolated from each other. There is little documentation on the ancestral descent of both tribes. However, oral tradition regards Ajman as a deep-rooted Arabian tribe, while the Suluba is thought by some to have originated from the followers of the Crusade camps. The validity of the history of ancestral descent of both tribes is substantiated by a comparison of the distribution of several genetic markers with those of other peninsular communities, and by genetic distance measures between them, the peninsula Arabs of the South-West, and a European population (Italians). Distance measures were calculated by two different methods. Both genetic and cytogenetic marker data obtained from the three Kuwaiti communities contribute significantly to the sparse genetic information on the peninsular populations, and illustrate the degree of genetic microheterogeniety between these communities which was brought about by some social factors that caused their isolation. Gene flow from the neighboring East African populations is evident from the allelic distribution of certain systems such as the Duffy and the Rhesus. Evidence is presented which supports the speculation regarding the prevalence of K of the Kell system and M and S of the MNSs system in the indigeneous peninsular populations. A new salivary amylase isozyrne, Amy K1, was detected in a subject of probable Asiatic Indian descent sampled in Kuwait. Q-band chromosomal heteromorphisms were scored in the three sampled Kuwaiti communities. There was no statistical significance in the differences in frequencies of these heteromorphisms between the three samples. Genetic distances between the Kuwaiti communities and others from the literature were calculated on the basis of Q-band heteromorphic loci. The distances demonstrate the pitfalls in using absolute frequencies of chromosomal variants scored by different research groups for comparative studies. Large Y chromosome was present at high frequencies in the three Kuwaiti communities and was highest among members of the Ajman tribe. This finding suggests that the prevalance of large Y may be a distinguishing cytogenetic feature of the indigenous peninsular populations. Small Y was present in the sample from the general population, but not detected in either sample from the tribal communities. The differences in frequencies of Y chromosome variants between the three sampled communities was found to be statistically significant. Investigation of the 9qh region with the G-11 technique has shown an absence of inversions, partial and complete, of this heteromorphic region in the sample from the general population of Kuwait.

Xiang Hai Liao. / "July 2002." / Thesis (Ph.D.)--Chinese University of Hong Kong, 2002. / Includes bibliographical references (p. 180-200). / Electronic reproduction. Hong Kong : Chinese University of Hong Kong, [2012] System requirements: Adobe Acrobat Reader. Available via World Wide Web. / Electronic reproduction. Ann Arbor, MI : ProQuest Information and Learning Company, [200-] System requirements: Adobe Acrobat Reader. Available via World Wide Web. / Mode of access: World Wide Web. / Abstracts in English and Chinese.

In order to determine if there is a shared biological lineage among four east central Indiana skeletal populations, the remains have been subjected to nonmetric trait analysis. This technique examines the directly observable manifestations of the genome on the skeleton in order to determine if two or more groups have a shared genetic background beyond the genes that all humans share. This information supplements the archaeological information already available from the cultural remains of these groups, in addition to the metrical data. / Department of Anthropology

Human populations in Africa have high levels of genetic, cultural and linguistic diversity. Despite this, only a small proportion of African populations have been studied from a genetics perspective. There is a particular dearth of information for Southern Africa, even though this region is one of the few places where hunter-gatherer, pastoralist and farmer populations remain, and where interaction between these groups can be studied. This thesis analyses novel populations from Lesotho, Namibia and South Africa, for both maternal and paternal markers, in order to provide a more accurate understanding of the history of this region. Analysis of biodemographic data for these populations highlights signatures of specific cultural traits. Interestingly, contrary to expectations, results indicate that in the patrilocal Basotho there are no differences in within and between area mtDNA and NRY variation, despite observations of a higher female than male migration rate. Females move preferentially at shorter distances than males, minimising the impact of the higher female migration rate. Further analysis of the Southern African samples indicates that the genetic composition of these populations is different to previously studied populations from Sub-Saharan Africa. Notably, there is a significantly higher maternal hunter-gatherer component, potentially as a result of an archeologically defined static frontier which existed along the Maloti/Drakensberg escarpment. Analysis of Namibian samples provides additional information about the history of populations with different lifestyles in the region, with support for a link between Southern Africa pastoralists and East Africa, while other Namibian populations appear genetically different from previously studied populations. Overall, this work demonstrates the diversity of populations in Southern Africa, improves understanding of the history of this region, and also emphasises the value of having access to geographically and ethnically well-defined samples.

Advances in the genetic analysis of humans have revealed a surprising abundance of local relatedness between purportedly unrelated individuals. Where common mutations classically inform us of ancient relationships, such segments of pairwise identical by descent (IBD) sharing from a common ancestor are the observable traces of recent inter-mating. Combining these two distinct sources of information can help disentangle the complex genetic structure and flux in human populations. When considered together with a heritable trait, the segments can also be used to interrogate unascertained rare variation and help in locating trait-effecting loci. This work presents methods for comprehensive analysis of population-wide IBD and explores applications to disease and the understanding of recent genetic variation. We propose several strategies for efficient detection of IBD segments in population genotype data. Our novel seed-based algorithm, GERMLINE, can reduce the computational burden of finding pairwise segments from quadratic to nearly linear time in a general population. We demonstrate that this approach is several orders of magnitude faster than the available all-pairs methods while maintaining higher accuracy. Next, we extended the GERMLINE technique to process cohorts of unlimited size by adaptively adjusting the search mechanism to meet resource restrictions. We confirm its effectiveness with an analysis of 50,000 individuals where contemporary methods can only process a few thousand. One draw-back of these two algorithms is the dependence on phased haplotype data as input - a constraint that becomes more difficult with large populations. We propose a solution to this problem with an algorithm that analyzes genotype data directly by exploring all potential haplotypes and scoring each putative segment based on linkage-disequilibrium. This solution significantly outperforms available methods when applied to full sequence data and is computationally efficient enough to analyze thousands of sequenced genomes where current methods can only determine haplotypes for several hundred. Secondly, we outline two algorithms for analyzing available IBD segments to increase our understanding of rare variation and complex disease. Motivated by whole-genome sequencing, we present the INFOSTIP algorithm, which uses IBD segments to optimize the selection of individuals for complete population ascertainment. In simulations, we show that INFOSTIP selection can significantly increase variant inference accuracy over random sampling and posit inference of 60% of an isolated population from 1% optimally selected individuals. Seeking to move beyond pairwise IBD segment analysis, we describe the DASH algorithm, which groups shared segments into IBD "clusters" that are likely to be commonly co-inherited and uses them as proxies for un-typed variation. In simulated disease studies, we show this reference-free approach to be much more powerful for detecting rare causal variants than either traditional single-marker analysis or imputation from a general reference panel. Applying the DASH algorithm to disease traits from different populations, we identify multiple novel loci of association. Together, these novel techniques integrate the power of population and disease genetics.

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