DOCSLIB.ORG

Y-Chromosome & Mitochondrial DNA Variation

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Y-Chromosome & Mitochondrial DNA Variation The Genetic Structure of the Kuwaiti and Failaka Island Populations: Y-chromosome & Mitochondrial DNA Variation By Jasem Bader Theyab M.A., University of Kansas, 2010 Copyright 2013 Submitted to the graduate degree program in Anthropology and the Graduate Faculty of the University of Kansas in partial fulfillment of the requirements for the degree of Doctor of Philosophy. ________________________________ Chairperson, Dr. Michael H. Crawford ________________________________ Dr. Majid Hannoum ________________________________ Dr. Deborah Smith ________________________________ Dr. Bartholomew C. Dean ________________________________ Dr. John Kelly Date Defended: May 28, 2013 The Dissertation Committee for Jasem Bader Theyab certifies that this is the approved version of the following dissertation: The Genetic Structure of the Kuwaiti and Failaka Island Populations: Y-chromosome & Mitochondrial DNA Variation ________________________________ Chairperson, Dr. Michael H. Crawford Date approved: May 31, 2013 ii Abstract Recent studies applying multidisciplinary approaches suggest that the Anatomically Modern Homo sapiens (AMHS) passed through the Arabian Peninsula in their major diaspora out of Africa. The Arabian Peninsula is connected to three continents: Africa, Asia, and Europe. In addition to the major diaspora, the Arabian Peninsula has witnessed numerous migrations among the three continents. The populations of the Arabian Peninsula have been investigated to better understand their evolutionary history. This dissertation investigated the paternal genetic structure of the Kuwaiti and Failaka Island populations using 15 loci Y-STR data. In addition, the maternal genetic structure of Failaka Island has been investigated using mtDNA HVS-I sequence data. This is the first genetic study to characterize Failaka Island population. The result showed that the Kuwaiti population has a high frequency of Y- haplogroup J1 (37%) similar to other Arabian populations. the highest Y-haplogroup frequency in Failaka Island is J2 (26%). According to the MDS plot, the Kuwaiti population is clustered with neighboring populations, including Iran and Saudi Arabia, and Failaka Island. However, maternal and paternal genetic structures of Failaka Island are closely related to Kuwait and Iran than Saudi Arabia. The paternal and maternal genetic structures of Kuwait are highly diverse and experienced more gene flow compared to Failaka Island which has experienced genetic drift with limited gene flow. Finally, Mantel tests show insignificant correlation between genetic and geographic distance matrices. iii This dissertation is dedicated to my mother, father, wife, lovely daughter Mariam, and the rest of my family for their support, encouragement, and patience iv Acknowledgment I would like to thank my academic father and mentor Prof. Michael H. Crawford who gave me unlimited support, guidance, and encouragement during my M.A. and PhD studies. It is easy to be admitted to any graduate program, but it is difficult to have such a mentor. I would like thank Dr. Suzanne Al-Bustan from Kuwait University for her support during my research, and for giving me access to her lab to do my analyses. I would especially like to thank the Kuwaiti and Failaka Island participants whose participation made this study possible. I would like to thank Dr. Yaqoub Al- Kandari for his continues support and encouragement since my acceptance of a Kuwait University scholarship. I would like to thank Dr. Mohammad Alenizi, forensic genetics specialist at the Ministry of Interior, and the forensic technician Mr. Ahmed M. H. Saleh, Senior Medical Laboratory Practitioner, for analyzing the electropherogram data using GeneMapper software. I would like to thank my committee members for their guidance and support throughout my PhD program: Prof. Michael H. Crawford, Dr. Majid Hannoum, Prof. Deborah Smith, Dr. Bartholomew C. Dean, and Prof. John Kelly ; my fellow students including: Dr. Kristin Young, Dr. Phillip Melton, Kristine Beaty, Dr. Norberto Baldi, Orion Graf, Stephen Johnson, Jacob Boyd and my other friends and fellow students in the Department of Anthropology and the Laboratory of Biological Antrhopology; the Department of Anthropology office staff: Le-Thu Erazmus, Carol Archinal, and Kathleen Womack. v I would like to thank Mrs. Mariam Al-Khamis at the Department of Cultural Relations of Kuwait University for answering all my questions regarding my scholarship. Finally, I am in debt to my mother, father, wife, daughter, and the rest of my family and friends for their support and encouragement during my studies. vi Table of Contents Chapter One: Introduction .......................................................................... 1 Chapter Two: Literature Review ................................................................ 6 Archaeological Background: ........................................................................................ 7 History of the Arabs: .................................................................................................. 10 The origin of the word Arab .................................................................................. 10 Arabia before Islam ................................................................................................ 11 Arabia and the rise of Islam ................................................................................... 15 Occupation of Arabia: Genetic evidence .................................................................. 17 Mitochondrial DNA (mtDNA) ............................................................................... 19 Y-chromosome ......................................................................................................... 21 Genetic Structure of Arabia ....................................................................................... 24 Archaeology of Kuwait: .............................................................................................. 30 History of Kuwait: ...................................................................................................... 33 Utub Families Migration ........................................................................................ 34 Al-Sabah…The Ruling Family .............................................................................. 37 Economic Development .......................................................................................... 38 Kuwait’s Social Structure ...................................................................................... 40 Kuwait in the 20 th Century: ................................................................................... 42 Oil Discovery & its Impact ..................................................................................... 43 Chapter Three: Material and Methods .................................................... 47 Sample .......................................................................................................................... 47 Comparative Populations: ...................................................................................... 47 Laboratory Methods ................................................................................................... 49 DNA Extraction ........................................................................................................ 49 Y-chromosome STRs: Amplification and Sequencing ........................................... 51 Mitochondrial DNA: Amplification and Sequencing ............................................. 52 Statistical Analyses: .................................................................................................... 54 Chapter Four: Results ................................................................................ 60 Y-chromosome DNA ................................................................................................... 60 Y-chromosome STRs Haplotype and Population Diversities ................................. 60 Y-chromosome Haplogroup Frequencies ............................................................... 67 Y-chromosome Median-Joining Tree ..................................................................... 73 Neighbor-Joining Tree ............................................................................................ 74 Multidimensional Scaling ........................................................................................ 74 Gene Diversity vs. Distance from the Centroid (r ii ) ................................................ 79 Analysis of Molecular Variance (AMOVA) ............................................................ 80 Mitochondrial DNA (mtDNA) ................................................................................... 81 Sequence Diversities and Neutrality Test Statistics ................................................ 81 Mismatch Distribution ............................................................................................. 82 Neighbor-Joining Tree ............................................................................................ 83 Multidimensional Scaling ........................................................................................ 83 Gene Diversity vs. Distance from the Centroid (r ii ) ................................................ 88 Analysis of Molecular Variance (AMOVA) ............................................................ 89 Mantel Test: .............................................................................................................
Load more

Recommended publications
  • Interregional Interaction and Dilmun Power
    University of South Florida Scholar Commons Graduate Theses and Dissertations Graduate School 4-7-2014 Interregional Interaction and Dilmun Power in the Bronze Age: A Characterization Study of Ceramics from Bronze Age Sites in Kuwait Hasan Ashkanani University of South Florida, [email protected] Follow this and additional works at: https://scholarcommons.usf.edu/etd Part of the History of Art, Architecture, and Archaeology Commons Scholar Commons Citation Ashkanani, Hasan, "Interregional Interaction and Dilmun Power in the Bronze Age: A Characterization Study of Ceramics from Bronze Age Sites in Kuwait" (2014). Graduate Theses and Dissertations. https://scholarcommons.usf.edu/etd/4980 This Dissertation is brought to you for free and open access by the Graduate School at Scholar Commons. It has been accepted for inclusion in Graduate Theses and Dissertations by an authorized administrator of Scholar Commons. For more information, please contact [email protected]. Interregional Interaction and Dilmun Power in the Bronze Age: A Characterization Study of Ceramics from Bronze Age Sites in Kuwait by Hasan J. Ashkanani A dissertation submitted in partial fulfillment of the requirements for the degree of Doctor of Philosophy Department of Anthropology College of Arts and Sciences University of South Florida Major Professor: Robert H. Tykot, Ph.D. Thomas J. Pluckhahn, Ph.D. E. Christian Wells, Ph.D. Jonathan M. Kenoyer, Ph.D. Jeffrey Ryan, Ph.D. Date of Approval April 7, 2014 Keywords: Failaka Island, chemical analysis, pXRF, petrographic thin section, Arabian Gulf Copyright © 2014, Hasan J. Ashkanani DEDICATION I dedicate my dissertation work to the awaited savior, Imam Mohammad Ibn Al-Hasan, who appreciates knowledge and rejects all forms of ignorance.
    [Show full text]
  • Germanic Origins from the Perspective of the Y-Chromosome
    Germanic Origins from the Perspective of the Y-Chromosome By Michael Robert St. Clair A dissertation submitted in partial satisfaction of the requirements for the degree of Doctor in Philosophy in German in the Graduate Division of the University of California, Berkeley Committee in charge: Irmengard Rauch, Chair Thomas F. Shannon Montgomery Slatkin Spring 2012 Abstract Germanic Origins from the Perspective of the Y-Chromosome by Michael Robert St. Clair Doctor of Philosophy in German University of California, Berkeley Irmengard Rauch, Chair This dissertation holds that genetic data are a useful tool for evaluating contemporary models of Germanic origins. The Germanic languages are a branch of the Indo-European language family and include among their major contemporary representatives English, German, Dutch, Danish, Swedish, Norwegian and Icelandic. Historically, the search for Germanic origins has sought to determine where the Germanic languages evolved, and why the Germanic languages are similar to and different from other European languages. Both archaeological and linguist approaches have been employed in this research direction. The linguistic approach to Germanic origins is split among those who favor the Stammbaum theory and those favoring language contact theory. Stammbaum theory posits that Proto-Germanic separated from an ancestral Indo-European parent language. This theoretical approach accounts for similarities between Germanic and other Indo- European languages by posting a period of mutual development. Germanic innovations, on the other hand, occurred in isolation after separation from the parent language. Language contact theory posits that Proto-Germanic was the product of language convergence and this convergence explains features that Germanic shares with other Indo-European languages.
    [Show full text]
  • Mitochondrial Haplogroup Background May Influence
    Genetics Mitochondrial Haplogroup Background May Influence Southeast Asian G11778A Leber Hereditary Optic Neuropathy Supannee Kaewsutthi,1,2 Nopasak Phasukkijwatana,2,3 Yutthana Joyjinda,1 Wanicha Chuenkongkaew,3,4 Bussaraporn Kunhapan,1 Aung Win Tun,1 Bhoom Suktitipat,1 and Patcharee Lertrit1,4 PURPOSE. To investigate the role of mitochondrial DNA markedly incomplete penetrance. The three most common (mt DNA) background on the expression of Leber hereditary primary LHON mutations, G3460A in ND1, G11778A in ND4, optic neuropathy (LHON) in Southeast Asian carriers of the and T14484C in ND6, account for more than 90% of LHON G11778A mutation. cases worldwide2 with G11778A being the most common. In 3 4–6 METHODS. Complete mtDNA sequences were analyzed from 53 Thailand and other Asian countries, G11778A is responsi- unrelated Southeast Asian G11778A LHON pedigrees in Thai- ble for approximately 90% of LHON families. land and 105 normal Thai controls, and mtDNA haplogroups The sex bias and the marked incomplete penetrance of were determined. Clinical phenotypes were tested for associ- LHON indicate that there must be other factors that modify disease expression. Mitochondrial background,7–8 nuclear ation with mtDNA haplogroup, with adjustment for potential 9–11 12 confounders such as sex and age at onset. background, and environmental factors have been impli- cated in disease expression, although the precise mechanisms RESULTS. mtDNA subhaplogroup B was significantly associated of pathogenesis are largely undefined. with LHON. Follow-up analysis
    [Show full text]
  • Fish and Fishing
    CHAPTER TWELVE Fish and Fishing D.T. Potts 1 Introduction The benefi ts of fi sh in the human diet have long been recognized. With an average protein content of 18 – 22 percent and other important elements (essential amino acids, calcium, fl ourine, iodine, iron, phosphorus; Vitamins A, B, and D), fi sh have been an important component of the low - protein, high - carbohydrate diets that have been common in the Near East throughout the pre - Modern era (Englund 1990 : 7 n33; see in general Van Neer 1994 ). Nowadays, the benefi ts of Omega 3 fatty acids in fi sh oil are promoted for their ability to help the body combat everything from Alzheimer ’ s disease to cancer, ulcers, and many more affl ictions. Nevertheless, considering the fact that the region dealt with in this volume contains long stretches of shoreline on at least seven seas (Aegean, Medi- terranean, Black, Red, Caspian and Arabian Seas, and the Persian Gulf), as well as a number of major rivers (Tigris, Euphrates, Karun, Orontes, Khabur, Balikh, Jordan, Greater Zab) and lakes (e.g., Lake Kinneret, Lake Van, Lake Parishan, Hamun - e Helmand), not to mention thousands of manmade irrigation canals, neither freshwater nor saltwater fi sh in Near Eastern antiquity have received the attention that they deserve. The purpose of this chapter is to provide a broad overview of a number of issues associated with fi sh. Topics discussed below include fi sh remains in archaeological contexts; evidence of fi shing sites; fi shing techniques and equipment; written sources on the organization of fi shing; fi sh preparation for consumption and the dietary contribution of fi sh in antiquity; A Companion to the Archaeology of the Ancient Near East, First Edition.
    [Show full text]
  • Tentative Lists Submitted by States Parties As of 15 April 2021, in Conformity with the Operational Guidelines
    World Heritage 44 COM WHC/21/44.COM/8A Paris, 4 June 2021 Original: English UNITED NATIONS EDUCATIONAL, SCIENTIFIC AND CULTURAL ORGANIZATION CONVENTION CONCERNING THE PROTECTION OF THE WORLD CULTURAL AND NATURAL HERITAGE WORLD HERITAGE COMMITTEE Extended forty-fourth session Fuzhou (China) / Online meeting 16 – 31 July 2021 Item 8 of the Provisional Agenda: Establishment of the World Heritage List and of the List of World Heritage in Danger 8A. Tentative Lists submitted by States Parties as of 15 April 2021, in conformity with the Operational Guidelines SUMMARY This document presents the Tentative Lists of all States Parties submitted in conformity with the Operational Guidelines as of 15 April 2021. • Annex 1 presents a full list of States Parties indicating the date of the most recent Tentative List submission. • Annex 2 presents new Tentative Lists (or additions to Tentative Lists) submitted by States Parties since 16 April 2019. • Annex 3 presents a list of all sites included in the Tentative Lists of the States Parties to the Convention, in alphabetical order. Draft Decision: 44 COM 8A, see point II I. EXAMINATION OF TENTATIVE LISTS 1. The World Heritage Convention provides that each State Party to the Convention shall submit to the World Heritage Committee an inventory of the cultural and natural sites situated within its territory, which it considers suitable for inscription on the World Heritage List, and which it intends to nominate during the following five to ten years. Over the years, the Committee has repeatedly confirmed the importance of these Lists, also known as Tentative Lists, for planning purposes, comparative analyses of nominations and for facilitating the undertaking of global and thematic studies.
    [Show full text]
  • Saudi Arabia.Pdf
    A saudi man with his horse Performance of Al Ardha, the Saudi national dance in Riyadh Flickr / Charles Roffey Flickr / Abraham Puthoor SAUDI ARABIA Dec. 2019 Table of Contents Chapter 1 | Geography . 6 Introduction . 6 Geographical Divisions . 7 Asir, the Southern Region � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � �7 Rub al-Khali and the Southern Region � � � � � � � � � � � � � � � � � � � � � � � � � �8 Hejaz, the Western Region � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � �8 Nejd, the Central Region � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � �9 The Eastern Region � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � �9 Topographical Divisions . .. 9 Deserts and Mountains � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � �9 Climate . .. 10 Bodies of Water . 11 Red Sea � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � 11 Persian Gulf � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � 11 Wadis � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � 11 Major Cities . 12 Riyadh � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � �12 Jeddah � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � �13 Mecca � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � � �
    [Show full text]
  • Y-Chromosome and Mtdna Genetics Reveal Significant Contrasts in Affinities of Modern Middle Eastern Populations with European and African Populations
    Y-Chromosome and mtDNA Genetics Reveal Significant Contrasts in Affinities of Modern Middle Eastern Populations with European and African Populations The Harvard community has made this article openly available. Please share how this access benefits you. Your story matters Citation Badro, Danielle A., Bouchra Douaihy, Marc Haber, Sonia C. Youhanna, Angélique Salloum, Michella Ghassibe-Sabbagh, Brian Johnsrud, et al. 2013. Y-chromosome and mtDNA genetics reveal significant contrasts in affinities of modern Middle Eastern populations with European and African populations. PLoS ONE 8(1): e54616. Published Version doi:10.1371/journal.pone.0054616 Citable link http://nrs.harvard.edu/urn-3:HUL.InstRepos:10613666 Terms of Use This article was downloaded from Harvard University’s DASH repository, and is made available under the terms and conditions applicable to Other Posted Material, as set forth at http:// nrs.harvard.edu/urn-3:HUL.InstRepos:dash.current.terms-of- use#LAA Y-Chromosome and mtDNA Genetics Reveal Significant Contrasts in Affinities of Modern Middle Eastern Populations with European and African Populations Danielle A. Badro1, Bouchra Douaihy1., Marc Haber1,2., Sonia C. Youhanna1, Ange´lique Salloum1, Michella Ghassibe-Sabbagh1, Brian Johnsrud3, Georges Khazen1, Elizabeth Matisoo-Smith4, David F. Soria-Hernanz2,5, R. Spencer Wells5, Chris Tyler-Smith6, Daniel E. Platt7, Pierre A. Zalloua1,8*, The Genographic Consortium" 1 The Lebanese American University, Chouran, Beirut, Lebanon, 2 Institut de Biologia Evolutiva (CSIC-UPF), Departament
    [Show full text]
  • The Genetic Landscape of Mediterranean North African Populations Through Complete Mtdna Sequences
    Annals of Human Biology ISSN: 0301-4460 (Print) 1464-5033 (Online) Journal homepage: http://www.tandfonline.com/loi/iahb20 The genetic landscape of Mediterranean North African populations through complete mtDNA sequences Neus Font-Porterias, Neus Solé-Morata, Gerard Serra-Vidal, Asmahan Bekada, Karima Fadhlaoui-Zid, Pierre Zalloua, Francesc Calafell & David Comas To cite this article: Neus Font-Porterias, Neus Solé-Morata, Gerard Serra-Vidal, Asmahan Bekada, Karima Fadhlaoui-Zid, Pierre Zalloua, Francesc Calafell & David Comas (2018) The genetic landscape of Mediterranean North African populations through complete mtDNA sequences, Annals of Human Biology, 45:1, 98-104, DOI: 10.1080/03014460.2017.1413133 To link to this article: https://doi.org/10.1080/03014460.2017.1413133 View supplementary material Published online: 30 Jan 2018. Submit your article to this journal View related articles View Crossmark data Citing articles: 1 View citing articles Full Terms & Conditions of access and use can be found at http://www.tandfonline.com/action/journalInformation?journalCode=iahb20 ANNALS OF HUMAN BIOLOGY, 2018 VOL. 45, NO. 1, 98–104 https://doi.org/10.1080/03014460.2017.1413133 RESEARCH PAPER The genetic landscape of Mediterranean North African populations through complete mtDNA sequences Neus Font-Porteriasa, Neus Sole-Morata a, Gerard Serra-Vidala, Asmahan Bekadab, Karima Fadhlaoui-Zidc, Pierre Zallouad, Francesc Calafella and David Comasa aDepartament de Ciencies Experimentals i de la Salut, Institute of Evolutionary Biology (CSIC-UPF), Universitat
    [Show full text]
  • Introducing the Algerian Mitochondrial DNA and Y- Chromosome Profiles Into the North African Landscape
    Introducing the Algerian Mitochondrial DNA and Y- Chromosome Profiles into the North African Landscape Asmahan Bekada1, Rosa Fregel2,3,4, Vicente M. Cabrera2, Jose´ M. Larruga2, Jose´ Pestano3,4, Soraya Benhamamouch1, Ana M. Gonza´lez2* 1 Department of Biotechnology, Faculty of Sciences, University of Oran, Oran, Algeria, 2 Department of Genetics, Faculty of Biology, University of La Laguna, La Laguna, Tenerife, Spain, 3 Department of Genetics, Faculty of Medicine, University of Las Palmas de Gran Canaria, Las Palmas de Gran Canaria, Gran Canaria, Spain, 4 Forensic Genetics Laboratory, Institute of Legal Medicine of Las Palmas, Las Palmas de Gran Canaria, Gran Canaria, Spain Abstract North Africa is considered a distinct geographic and ethnic entity within Africa. Although modern humans originated in this Continent, studies of mitochondrial DNA (mtDNA) and Y-chromosome genealogical markers provide evidence that the North African gene pool has been shaped by the back-migration of several Eurasian lineages in Paleolithic and Neolithic times. More recent influences from sub-Saharan Africa and Mediterranean Europe are also evident. The presence of East- West and North-South haplogroup frequency gradients strongly reinforces the genetic complexity of this region. However, this genetic scenario is beset with a notable gap, which is the lack of consistent information for Algeria, the largest country in the Maghreb. To fill this gap, we analyzed a sample of 240 unrelated subjects from a northwest Algeria cosmopolitan population using mtDNA sequences and Y-chromosome biallelic polymorphisms, focusing on the fine dissection of haplogroups E and R, which are the most prevalent in North Africa and Europe respectively.
    [Show full text]
  • HUMAN MITOCHONDRIAL DNA HAPLOGROUP J in EUROPE and NEAR EAST M.Sc
    UNIVERSITY OF TARTU FACULTY OF BIOLOGY AND GEOGRAPHY, INSTITUTE OF MOLECULAR AND CELL BIOLOGY, DEPARTMENT OF EVOLUTIONARY BIOLOGY Piia Serk HUMAN MITOCHONDRIAL DNA HAPLOGROUP J IN EUROPE AND NEAR EAST M.Sc. Thesis Supervisors: Ph.D. Ene Metspalu, Prof. Richard Villems Tartu 2004 Table of contents Abbreviations .............................................................................................................................3 Definition of basic terms used in the thesis.........................................................................3 Introduction................................................................................................................................4 Literature overview ....................................................................................................................5 West–Eurasian mtDNA tree................................................................................................5 Fast mutation rate of mtDNA..............................................................................................9 Estimation of a coalescence time ......................................................................................10 Topology of mtDNA haplogroup J....................................................................................12 Geographic spread of mtDNA haplogroup J.....................................................................20 The aim of the present study ....................................................................................................22
    [Show full text]
  • Mtdna Haplogroup J: a Contributing Factor of Optic Neuritis
    European Journal of Human Genetics (1999) 7, 404–406 t © 1999 Stockton Press All rights reserved 1018–4813/99 $12.00 http://www.stockton-press.co.uk/ejhg SHORT REPORT mtDNA haplogroup J: a contributing factor of optic neuritis Pascal Reynier1, Isabelle Penisson-Besnier2, Corinne Moreau2, Fr´ed´erique Savagner1, Bruno Vielle3, Jean Emile4, Fr´ed´eric Dubas2 and Yves Malthi`ery1 1Laboratoire de Biochimie et Biologie Mol´eculaire2Service de Neurologie A3Service de Biostatistiques4Service de Neurologie B, Centre Hospitalier Universitaire d’Angers, France Optic neuritis frequently occurs in multiple sclerosis (MS), and shares several similarities with the optic neuritis of Leber’s hereditary optic neuropathy (LHON), which is mainly due to maternally transmitted mitochondrial DNA (mtDNA) mutations. Our report shows for the first time that a mitochondrial DNA background could influence the clinical expression of MS. One European mtDNA haplogroup was found only in MS patients with optic neuritis but not in MS patients without visual symptoms. Therefore, we hypothesize that mtDNA haplogroup J might constitute a risk factor for optic neuritis occurrence when it is coincidentally associated with MS, but not be a risk factor for developing MS per se as suggested previously. Keywords: multiple sclerosis; optic neuritis; LHON; mtDNA; haplotypes Introduction Additional mutation at position 15257 provides the haplogroup J2. Torroni et al have shown that In respect of LHON, the mtDNA ‘primary’ mutations haplogroup J increases the risk of disease expression alone can lead to optic atrophy, but several ‘secondary’ when a primary mutation is present. Haplogroup T is mitochondrial mutations must be associated to induce 1 characterised by the association of 4216 and 4917 point clinical expression of LHON.
    [Show full text]
  • Ancient Mitochondrial DNA from Pre-Historic
    Grand Valley State University ScholarWorks@GVSU Masters Theses Graduate Research and Creative Practice 4-30-2011 Ancient Mitochondrial DNA From Pre-historic Southeastern Europe: The rP esence of East Eurasian Haplogroups Provides Evidence of Interactions with South Siberians Across the Central Asian Steppe Belt Jeremy R. Newton Grand Valley State University Follow this and additional works at: http://scholarworks.gvsu.edu/theses Part of the Cell Biology Commons, and the Molecular Biology Commons Recommended Citation Newton, Jeremy R., "Ancient Mitochondrial DNA From Pre-historic Southeastern Europe: The rP esence of East Eurasian Haplogroups Provides Evidence of Interactions with South Siberians Across the Central Asian Steppe Belt" (2011). Masters Theses. 5. http://scholarworks.gvsu.edu/theses/5 This Thesis is brought to you for free and open access by the Graduate Research and Creative Practice at ScholarWorks@GVSU. It has been accepted for inclusion in Masters Theses by an authorized administrator of ScholarWorks@GVSU. For more information, please contact [email protected]. ANCIENT MITOCHONDRIAL DNA FROM PRE-HISTORIC SOUTH- EASTERN EUROPE: THE PRESENCE OF EAST EURASIAN HAPLOGROUPS PROVIDES EVIDENCE OF INTERACTIONS WITH SOUTH SIBERIANS ACROSS THE CENTRAL ASIAN STEPPE BELT A thesis submittal in partial fulfillment of the requirements for the degree of Master of Science By Jeremy R. Newton To Cell and Molecular Biology Department Grand Valley State University Allendale, MI April, 2011 “Not all those who wander are lost.” J.R.R. Tolkien iii ACKNOWLEDGEMENTS I would like to extend my sincerest thanks to every person who has motivated, directed, and encouraged me throughout this thesis project. I especially thank my graduate advisor, Dr.
    [Show full text]