Thursday, October 28, 2010

New 23andMe Relative Finder match connection identified

Last night I was able to identify the possible pedigree connection between my self and a predicted 5th cousin. She and I are actually 6th cousins, once removed. The connection is in my maternal line but her paternal line with William Kidd and his unknown wife. We have a match on chromosome 17.

I have a 3rd cousin, once removed, who matches me at 4 locations. We share four GG Grandparents, Jesse D. Swain and Mary Elizabeth Ball, and John Kidd and Maliza Stephens. None of our matches are on chromosome 17. She and her daughter have matches on chromosome 6 with my female multi-1st cousin which I do not have, and I have matches with her and her daughter on the X which my female multi-1st cousin does not have.

So the question still remains whether the first match on chromosome 17 is from William Kidd or from his unknown wife. I'm tending toward the unknown wife.

Thursday, October 14, 2010

Genetic analysis of the presumptive blood from Louis XVI, king of France

Articles in Press
FSI Genetics

Genetic analysis of the presumptive blood from Louis XVI, king of France

Carles Lalueza-FoxaCorresponding Author Informationemail address, Elena Giglia, Carla Binid, Francesc Calafellab, Donata Luisellic, Susi Pelottid, Davide Pettenerc

Received 9 July 2010; received in revised form 14 August 2010; accepted 15 September 2010. published online 12 October 2010. Corrected Proof

Abstract

A text on a pyrographically decorated gourd dated to 1793 explains that it contains a handkerchief dipped with the blood of Louis XVI, king of France, after his execution. Biochemical analyses confirmed that the material contained within the gourd was blood. The mitochondrial DNA (mtDNA) hypervariable region 1 (HVR1) and 2 (HVR2), the Y-chromosome STR profile, some autosomal STR markers and a SNP in HERC2 gene associated to blue eyes, were retrieved, and some results independently replicated in two different laboratories. The uncommon mtDNA sequence retrieved can be attributed to a N1b haplotype, while the novel Y-chromosome haplotype belongs to haplogroup G2a. The HERC2 gene showed that the subject analyzed was a heterozygote, which is compatible with a blue-eyed person, as king Louis XVI was. To confirm the identity of the subject, an analysis of the dried heart of his son, Louis XVII, could be undertaken.

Keywords: Louis XVI, Identification, Ancient DNA, Mitochondrial DNA, Y-chromosome, Eye colour

  • a Institut de Biologia Evolutiva, CSIC-UPF, Dr. Aiguader 88, 08003 Barcelona, Spain
  • b CIBER Epidemiología y Salud Pública (CIBERESP), Spain
  • c Dipartimento diBiologia, Evoluzionistica Sperimentale, Area di Antropologia, Universitàdi, Bologna, Via Selmi 3, 40126 Bologna, Italy
  • d Dipartimento di Medicina e Salute Pubblica, Sezione di Medicina Legale, Università di Bologna, Via Irnerio 49, 40126 Bologna, Italy

Corresponding Author InformationCorresponding author. Tel.: +34 933160845.

PII: S1872-4973(10)00160-2
doi:10.1016/j.fsigen.2010.09.007

© 2010 Elsevier Ireland Ltd. All rights reserved.

Ancestry and Disease in the Age of Genomic Medicine

Review Article
Ancestry and Disease in the Age of Genomic Medicine
http://www.nejm.org/doi/full/10.1056/NEJMra0911564?query=TOC#t=articleTop

W. Gregory Feero, M.D., Ph.D., Editor, Alan E. Guttmacher, M.D., Editor

Ancestry and Disease in the Age of Genomic Medicine

Charles N. Rotimi, Ph.D., and Lynn B. Jorde, Ph.D.

N Engl J Med 2010; 363:1551-1558 October 14, 2010

Human genetic data are accumulating at an ever-increasing pace, and whole genome sequences of individuals from multiple populations are now publicly available.1-3 The growing inventory of human genetic variation is facilitating an understanding of why susceptibility to common diseases varies among individuals and populations. In addition, we are gaining insights that may improve the efficacy and safety of therapeutic drugs. Such knowledge is relevant to fundamental questions about our origins, differences, and similarities. Here, we provide a brief review of the current knowledge of human genetic variation and how it contributes to our understanding of human evolutionary history, group identity, and health disparities.

Sunday, October 03, 2010

Bridging the Divide between Genomic Science and Indigenous Peoples

Bridging the Divide between Genomic Science and Indigenous Peoples
http://onlinelibrary.wiley.com/doi/10.1111/j.1748-720X.2010.00521.x/abstract

The Journal of Law, Medicine & Ethics, Volume 38, Issue 3, pages 684–696, Fall 2010.

Bette Jacobs, Jason Roffenbender, Jeff Collmann, Kate Cherry, LeManuel Lee Bitsói, Kim Bassett, and Charles H. Evans, Jr.

The new science of genomics endeavors to chart the genomes of individuals around the world, with the dual goals of understanding the role genetic factors play in human health and solving problems of disease and disability. From the perspective of indigenous peoples and developing countries, the promises and perils of genomic science appear against a backdrop of global health disparity and political vulnerability. These conditions pose a dilemma for many communities when attempting to decide about participating in genomic research or any other biomedical research. Genomic research offers the possibility of improved technologies for managing the acute and chronic diseases that plague their members. Yet, the history of particularly biomedical research among people in indigenous and developing nations offers salient examples of unethical practice, misuse of data, and failed promises. This dilemma creates risks for communities who decide either to participate or not to participate in genomic science research. Some argue that the history of poor scientific practice justifies refusal to join genomic research projects. Others argue that disease poses such great threats to the well-being of people in indigenous communities and developing nations that not participating in genomic research risks irrevocable harm. Thus, some communities particularly among indigenous peoples have declined to participate as subjects in genomic research. At the same time, some communities have begun developing new guidelines, procedures, and practices for engaging with the scientific community that offer opportunities to bridge the gap between genomic science and indigenous and/or developing communities. Four new approaches warrant special attention and further support: consulting with local communities; negotiating the complexities of consent; training members of local communities in science and health care; and training scientists to work with indigenous communities. Implicit is a new definition of “rigorous scientific research,” one that includes both community development and scientific progress as legitimate objectives of genomic research. Innovative translational research is needed to develop practical, mutually acceptable methods for crossing the divide between genomic researchers and indigenous communities. This may mean the difference between success and failure in genomic science, and in improving health for all peoples.