Genetic Genealogy. Using DNA to research your maternal & paternal lines. Ed McGuire. Vermont Genealogy Library 2/24/14

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1 Genetic Genealogy Using DNA to research your maternal & paternal lines Ed McGuire 2/24/14

2 Introduction Soprano Family Tree 2 2/24/14

3 Introduction 3 2/24/14

4 Introduction 4 2/24/14

5 Introduction Contradictory Evidence Brickwalls Many identical names in one place 5 2/24/14

6 Introduction Lacking answers from basic sources, we try - Immigration, naturalization records - Military service, pension records - Newspapers, journals, online searches - Collateral lines, friends & associates 6 2/24/14

7 Introduction 7 2/24/14

8 Introduction 8 2/24/14

9 DNA Basics 9 2/24/14

10 DNA Basics Source: National Genealogical Society: Genetic Genealogy The Basics 10 2/24/14

11 DNA Basics Each Cell s 23 Chromosome Pairs Karyogram of Human Male Cell Source: Wikipedia.org (en.wikipeida.org/wiki/karyotype) 11 2/24/14

12 DNA Basics DNA Molecule 12 2/24/14

13 DNA Basics DNA Molecule Source: National Human Genome Research Institute (NHGRI) 13 2/24/14

14 DNA Basics Source: NGS Course Genetic Genealogy, the Basics 14 2/24/14

15 DNA Basics Humans have about 20,000 genes Genes comprise 1.5% of our DNA Source: NGS Course Genetic Genealogy, the Basics 15 2/24/14

16 DNA Basics Genetic Genealogy and Privacy Concerns Our DNA is integral to our identity y-dna and mt-dna tests do not use medically sensitive sites at-dna tests w/ AncestryDNA & FamilyTreeDNA don t either - 23andMe does test a extra SNPs w/ medical implications Extensive protections are used by all 3 companies & 3d party sites Loss of the raw data w/o links to identity of owner is near useless If you aren t happy after reading T s & C s of sites don t test 16 2/24/14

17 DNA Basics Humans have about 20,000 genes Genes comprise 1.5% of our DNA Source: NGS Course Genetic Genealogy, the Basics 17 2/24/14

18 DNA Basics DNA Mutations 18 2/24/14

19 DNA Basics DNA Mutations SNP = Single Nucleotide Polymorphism 19 2/24/14

20 DNA Basics Mutation rates much higher in non-coding region Source: NGS Course Genetic Genealogy, the Basics 20 2/24/14

21 DNA Basics Source: NGS Course Genetic Genealogy, the Basics 21 2/24/14

22 DNA Basics Modern Humans Present in Africa (200,000 YBP) 22 2/24/14

23 DNA Basics African Y-DNA Haplogroup A A ( > 100,000 Years Ago) 23 2/24/14

24 DNA Basics Y-DNA Haplogroup B Diverges From A B A ( > 100,000 Years Ago) 24 2/24/14

25 DNA Basics Modern Y-DNA Haplogroups of Africa E D C B A ( > 100,000 Years Ago) 25 2/24/14

26 DNA Basics Modern Y-DNA Haplogroups of Africa E D C B A ( > 100,000 Years Ago) 26 2/24/14

27 The Spread of Haplogroup F Source: Wikimedia Commons ( 27 2/24/14

28 Haplogroup R s Dispersion Source: Wikimedia Commons ( 28 2/24/14

29 DNA Basics Source: FamilyTreeDNA.com 29 2/24/14

30 DNA Basics Recap DNA comprises our chromosomes & mitochondrial genome Mutations accumulate over time especially in non-coding areas Population groups (clans) can be defined by SNP mutations The major clans are called haplogroups Our DNA allows us to track our haplogroups & their migrations 30 2/24/14

31 DNA Basics Mitochondrial (mtdna) Genetic Testing 31 2/24/14

32 Mitochondrial DNA Tests Cell Wall Chromosomes Cytoplasm Mitochondria Nucleus Hominid Cell 32 2/24/14

33 Mitochondrial DNA Tests Maternal Descent of Mitochondrial DNA (mtdna) Mitochondrial DNA Nuclear (autosomal) DNA 33 2/24/14

34 Mitochondrial DNA Tests Mitochondrial DNA (~16,600 Base Pairs) (Hyper-variable Region) HVR-1 Non-Coding (Hyper-variable Region) HVR-2 Non-Coding mtdna Coding Region (37 genes) 34 2/24/14

35 Mitochondrial DNA Tests Mitochondrial DNA Haplogroup Migration Source: FamilyTreeDNA.com 35 2/24/14

36 Mitochondrial DNA Tests mtdna Haplogroups & Origins Location Haplogroups African Middle Eastern European Asian Native American L1, L2, L3, M N, M H, I, J, K, T, U, V, W, X B, C, D, F, G, M, Y, Z, A A, B, C, D, X 36 2/24/14

37 Mitochondrial DNA Tests Mitochondrial Inheritance Pattern

38 Mitochondrial DNA Tests GGG-Mother GG-Mother G-Mother Mother Path of mitochondrial DNA

39 Mitochondrial DNA Tests Characteristics of mtdna Data Deep ancestry (mutations 2,000 to 10,000 years ago) Migration routes & locations Most matches in anthropological time vs. genealogical time 39 2/24/14

40 Mitochondrial DNA Tests Common Uses of mtdna Tests Group-specific studies (Acadian, Jewish, Mi kma ki, etc) Native American ancestor on maternal line? African? Asian? mtdna haplogroup studies Used to identify remains of fallen military It can also provide recent evidence 40 2/24/14

41 Mitochondrial DNA Tests Fille du Roi Catherine Pillard Catherine CHARRON-DUCHARME Marie Angélique CHAGNON Marie Antoinette BENOIT-LIVERNOIS Marie Angélique LEDUC Angélique LANGEVIN Marguerite DANSEREAU Marguerite GUYON dit Dion Delphine CORDEAU Marie Yvonne DAIGNEAULT Thérèse RICHARD Nicole BOUTIN 41 2/24/14

42 Mitochondrial DNA Tests mtdna Haplogroups & Origins Location Haplogroups African Middle Eastern European Asian Native American L1, L2, L3, M N, M H, I, J, K, T, U, V, W, X B, C, D, F, G, M, Y, Z, A A, B, C, D, X 42 2/24/14

43 Y-Chromosome Tests Fille du Roi Catherine Pillard Catherine CHARRON-DUCHARME Marie Angélique CHAGNON Marie Antoinette BENOIT-LIVERNOIS Marie Angélique LEDUC Angélique LANGEVIN Marguerite DANSEREAU Marguerite GUYON dit Dion Delphine CORDEAU Marie Yvonne DAIGNEAULT Thérèse RICHARD Nicole BOUTIN 43 2/24/14

44 Mitochondrial DNA Tests Filles du Roi Catherine Pillard Catherine CHARRON-DUCHARME Marie Louise CHARRON-DUCHARME Catherine CHARRON-DUCHARME Marie Angélique CHAGNON Marie Madeleine COLIN dit Laliberté Marie Angélique CHAGNON Marie Antoinette BENOIT-LIVERNOIS Marie Judith CHARON dit Larose Geneviève BENOIT-LIVERNOIS Marie Angélique LEDUC Marie Judith GODU Marie Magdeleine BEAUDRY Angélique LANGEVIN Marie Judith VACHON Marie Amable GUYON Marguerite DANSEREAU Angélique DALPÉ dit Pariseau Euphrosine BOURGEOIS Marguerite GUYON dit Dion Sophie MINOR Marie Delphine LUCIER Delphine CORDEAU Mathilde DUFRESNE/ASHLEY Marie Yvonne DAIGNEAULT Dorothy JOHNSON Delphine DE FORGE Thérèse RICHARD Betty Ann BRADY Lena Della MAY Faith Eleanor MORROW Nicole BOUTIN John CROTEAU Sandra MCGRATH Three mtdna Tests: All results are haplogroup A (Native American) 44 2/24/14

45 Mitochondrial DNA Tests Genealogical Value in mtdna Tests 1. Disprove a hypothesis Annie Jones DAWKINS was a sister of Mary Jones ADAMS 2. Find a genetic cousin who has researched further back in time 3. Find genetic cousins with links to a specific location in Europe CeCe Moore s DNA helps w/ woman s 1730 brickwall 45 2/24/14

46 Mitochondrial DNA Tests mtdna Results from FamilyTreeDNA 46 2/24/14

47 Mitochondrial DNA Tests Key Data From mtdna Testing 47 2/24/14

48 Mitochondrial DNA Tests mtdna Test Results (Haplogroup = U5) Source: FamilyTreeDNA.com 48 2/24/14

49 Mitochondrial DNA Tests Example of mtdna Matches Maria Adams Fred Jones Janet O Neill Lynn Kopec Elisa Schmidt Sally Martinez Home Brown Jean-Luc Leclerc Source: FamilyTreeDNA.com 49 2/24/14

Y-DNA Genetic Testing

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