Geneettinen sukututkimus ja laboratoriotestit

Mechelinus-suvun sukukokous

Helsinki 19.5.2015

Marja Pirttivaara

FT, MBA

19.5.2015 © Marja Pirttivaara 1

Sukututkimuksen käsitteitä

”Sukututkimuksella tarkoitetaan oman tai jonkun muun henkilön sukulaisen vaiheiden tutkimista.”

Arkistolaitos: Käyttölupahakemushttp://www.arkisto.fi/uploads/Aineistot/Lomakkeet/Kirkonkirjat/kayttolupahakemus_kirkonkirjat_15052012_suojattu.pdf(4.3.2015)

Geneettisellä sukututkimuksellatarkoitetaan oman tai jonkun muunhenkilön sukulaisten keskinäistensukulaisuussuhteiden ja vaiheidentutkimista hyödyntämällä DNA-testejäyhdessä perinteisen sukututkimuksen ja historiallisten lähteiden kanssa.

“Genetic genealogy: The use of DNA testing in combination with traditional genealogical and historical records to infer relationships between individuals.”

International Society of Genetic GenealogyISOGG: Genetics Glossaryhttp://isogg.org/wiki/Genetics_Glossary#G(4.3.2015)

19.5.2015 © Marja Pirttivaara

Ihmisen perimäIhmisellä on

• yksi perimä eli genomi,

• soluja noin 1014 (*),

• 23 kromosomiparia,

• kromosomeissa geenejä noin23 000,

• perimässä emäspareja noinkolme miljardia,

• SNPt eli snippi on yhdenemäksen monimuotoisuus.

19.5.2015

• http://www.biomag.hus.fi/braincourse/L2.html

Marja Pirttivaara

“Neljä suurta” tarjoavat testejä

• Family Tree DNA (FTDNA) http://www.familytreedna.com• 23andMe http://www.23andme.com• Ancestry http://www.ancestry.com• National Geographic https://genographic.nationalgeographic.com/• Lisäksi muita pienempiä:

http://www.isogg.org/wiki/List_of_DNA_testing_companies

• Kuluttajagenomiikan markkinoiden uskotaan kasvavan edelleen nopeasti, vuoden 2015 aikana saavutetaan todennäköisesti kolmen miljoonan testatun raja. (Spencer Wells, director, National Geographic Genographic Project).

• Esim. Family Tree DNA perustestit: Y-DNA (isälinja), mtDNA (äitilinja) ja Family Finder (autosomaali DNA ja X kromosomi, yht. n. 700 000 snippiä; ”etäserkkutesti”)

19.5.2015 Marja Pirttivaara

DNA-testifirman valinta

• Mikä on yrityksen tietokannan koko, miten paljon on testattuja?• Mihin maihin yritys myy testejä?• Miltä yrityksen tulevaisuus näyttää?• Mitä muita tuotteita ja palveluita yritys tarjoaa, saako lisätestejä?• Minkälainen asiakaspalvelu yrityksellä on?• Missä laboratoriossa testit tehdään, onko laboratorio akkreditoitu?• Miten turvassa data on, mikä on yksityisyys?• Onko yrityksellä tieteellistä näyttöä?• Säilyttääkö yritys näytteet?• Saako raakadatan itselleen?• Tarjoaako yritys mahdollisuuksia projekteihin?• Mitä testit maksavat, entä lähetyskustannukset?

http://www.isogg.org/wiki/Choosing_a_DNA_testing_company

19.5.2015 © Marja Pirttivaara

Suomi DNA projekti

19.5.2015 Marja Pirttivaara 6

Lkm

Yht. jäseniä 5186

Y-DNA 12 3504

Y-DNA 67 2563

Y-DNA 111 593

BIG Y 202

Geno 2.0 Tr. 133

mtDNA 2649

mtDNA Full 1610

Family Finder 1935

Näytteenotto

19.5.2015

Suomen Sukututkimusseuran toiminnanjohtaja PT. Kuusiluoma näyttää mallia. Geneettinen sukututkimus kiinnosti Tieteiden yössä (Marja Pirttivaara, blogi, tammikuu 2015)

Video: kuvaus Laura Aho (SSS), ohjaus ja leikkaus Marja Pirttivaara

Gene by Gene laboratorioakkreditoinnit

19.5.2015 Marja Pirttivaara

Accreditations for Molecular Pathology and Relationship Testinghttps://www.genebygene.com/

Gene by Gene / Family Tree DNA laboratorio

© Mika Pirttivaara4.3.2027

Gene by Gene & MD Anderson Cancer Center 1/2

Lehdistötiedote (4/2013): Gene By Gene Signs Agreement with MD Anderson Cancer Center

Will provide clinical phase instruction, training and supervision for students as part of agreement

HOUSTON — Apr. 23, 2013 – Gene By Gene, Ltd., the Houston-based genomics and genetics testing company, announced that it has signed an agreement with the University of Texas MD Anderson Cancer Center to become one of its affiliated clinical laboratories.

Under the agreement, scientists at Gene By Gene’s Genomic Research Center will provide the clinical phase instruction, training and supervision required for students in the Molecular Genetic Technology Program, one of eight undergraduate programs offered through MD Anderson’s School of Health Professions.

“We’re delighted to partner with Gene By Gene, with its long and pioneering history in the field of genomics,” said Program Director, Peter Hu, Ph.D., with the School of Health Professions. “Gene By Gene’s sequencing, next-generation sequencing and microarray laboratory will provide the top level of experience and training that we want all our molecular students to attain.

”Gene By Gene’s Genomic Research Center is a CLIA registered lab which has processed more than 5 million discrete DNA tests from more than 700,000 individuals and organizations globally. It is now one of only 36 laboratories in the United States, including the Yale University School of Medicine and the Baylor College of Medicine, to achieve this prestigious affiliation.

“We’re very proud to be able to share our laboratory and expertise with MD Anderson’s School of Health Professions,” said Gene By Gene President Bennett Greenspan. “It’s an honor to be among the select few companies and institutions that are invited to affiliate with this prestigious institution. In addition, this is a wonderful opportunity for Gene By Gene to continue investing in the next generation of leaders in genomic and genetic science, and we’re thrilled to welcome the first students to our Genomics Research Center this May.”

http://dna-explained.com/2013/04/23/gene-by-gene-signs-agreement-with-md-anderson-cancer-center/

19.5.2015 Marja Pirttivaara

Gene by Genen yhteistyökumpaniMD Anderson Cancer Center

19.5.2015 Marja Pirttivaara

Tieteellisiä julkaisuja liittyen FTDNAn testaamiin näytteisiin 1/8

19.5.2015 Marja Pirttivaara

* Arunkumar et al: Population differentiation of southern Indian male lineages correlates withagricultural expansions predating the caste system. PLoS One. 2012;7(11):e50269. doi: 10.1371/journal.pone.0050269. Epub 2012 Nov 28. Erratum in: PLoS One. 2013;8(7). doi:10.1371/annotation/8663819b-5ff0-4133-b70a-2d686dfb0a44.

* Badro et al: Y-chromosome and mtDNA genetics reveal significant contrasts in affinities of modern Middle Eastern populations with European and African populations. PLoS One. 2013;8(1):e54616. doi: 10.1371/journal.pone. 0054616. Epub 2013 Jan 30.

* Balanovsky et al: Deep Phylogenetic Analysis of Haplogroup G1 Provides Estimates of SNP and STR Mutation Rates on the Human Y-Chromosome and Reveals Migrations of Iranic Speakers PLoSOne. 2015; 10(4): e0122968. Published online 2015 April 7. doi: 10.1371/journal.pone.0122968 PMCID: PMC4388827

* Balanovsky et al: Parallel evolution of genes and languages in the Caucasus region. Mol BiolEvol. 2011 Oct;28(10):2905-20. doi: 10.1093/molbev/msr126. Epub 2011 May 13.

* Behar et al: A “Copernican” Reassessment of the Human Mitochondrial DNA Tree from its Root, Am J Hum Genet. 2012 April 6; 90(4): 675–684. doi: 10.1016/j.ajhg.2012.03.002Correction in: Am J Hum Genet. 2012 May 4; 90(5): 936.

* Behar et al: The Basque paradigm: genetic evidence of a maternal continuity in the Franco-Cantabrian region since pre-Neolithic times. Am J Hum Genet. 2012 Mar 9;90(3):486-93. doi: 10.1016/j.ajhg.2012.01.002. Epub 2012 Feb 23. Erratum in: Am J Hum Genet. 2012 May4;90(5):936.

Tieteellisiä julkaisuja liittyen FTDNAn testaamiin näytteisiin 2/8

19.5.2015 Marja Pirttivaara

* Behar et al: The dawn of human matrilineal diversity. Am J Hum Genet. 2008 May;82(5):1130-40. doi: 10.1016/j.ajhg.2008.04.002. Epub 2008 Apr 24.

* Behar et al: A novel 154-bp deletion in the human mitochondrial DNA control region in healthy individuals. Hum Mutat. 2008 Dec;29(12):1387-91. doi: 10.1002/humu.20835.

* Behar et al: The Genographic Project public participation mitochondrial DNA database. PLoS Genet. 2007 Jun;3(6):e104. Erratum in: PLoS Genet. 2007 Sep 14;3(9):1785.

* Birds: Towards Improvements in the Estimation of the Coalescent: Implications for theMost Effective Use of Y Chromosome Short Tandem Repeat Mutation Rates PLoS One. 2012; 7(10): e48638. Published online 2012 October 31. doi: 10.1371/journal.pone.0048638.

* Boattini et al: Uniparental markers in Italy reveal a sex-biased genetic structure and different historical strata. PLoS One. 2013 May 29;8(5):e65441. doi: 10.1371/journal.pone.0065441. Print 2013.

* Brandt et al: Ancient DNA reveals key stages in the formation of central European mitochondrial genetic diversity. Science. 2013 Oct 11;342(6155):257-61. doi: 10.1126/science.1241844.

* Brotherton et al: Neolithic mitochondrial haplogroup H genomes and the geneticorigins of Europeans. Nat Commun. 2013;4:1764. doi: 10.1038/ncomms2656.

Tieteellisiä julkaisuja liittyen FTDNAn analysoimiin näytteisiin 3/8

19.5.2015 Marja Pirttivaara

* Cai et al: Human migration through bottlenecks from Southeast Asia into East Asia during LastGlacial Maximum revealed by Y chromosomes. PLoS One. 2011;6(8):e24282. doi: 10.1371/journal.pone.0024282. Epub 2011 Aug 31.

* Cariaso & Lennon: SNPedia: a wiki supporting personal genome annotation, interpretation and analysis Nucleic Acids Res. 2012 January; 40(Database issue): D1308–D1312. Published online 2011 December 2. doi: 10.1093/nar/gkr798

* Clarke et al: From cheek swabs to consensus sequences: an A to Z protocol for high-throughputDNA sequencing of complete human mitochondrial genomes. BMC Genomics. 2014 Jan 25;15:68. doi: 10.1186/1471-2164-15-68.

* Der Sarkissian et al: Mitochondrial genome sequencing in Mesolithic North East Europe Unearthsa new sub-clade within the broadly distributed human haplogroup C1. PLoS One. 2014 Feb4;9(2):e87612. doi: 10.1371/journal.pone.0087612. eCollection 2014.

* Der Sarkissian et al: Ancient DNA reveals prehistoric gene-flow from Siberia in the complexhuman population history of North East Europe. PLoS Genet. 2013;9(2):e1003296. doi: 10.1371/journal.pgen.1003296. Epub 2013 Feb 14.

* Derenko et al: Complete Mitochondrial DNA Analysis of Eastern Eurasian Haplogroups RarelyFound in Populations of Northern Asia and Eastern Europe PLoS One. 2012; 7(2): e32179. Publishedonline 2012 February 21. doi: 10.1371/journal.pone.0032179

* Derenko et al: Origin and Post-Glacial Dispersal of Mitochondrial DNA Haplogroups C and D in Northern Asia PLoS One. 2010; 5(12): e15214. Published online 2010 December 21. doi: 10.1371/journal.pone.0015214

Tieteellisiä julkaisuja liittyen FTDNAn analysoimiin näytteisiin 4/7

19.5.2015 Marja Pirttivaara

* Dulik et al: Y-chromosome analysis reveals genetic divergence and new founding native lineages in Athapaskan- and Eskimoan-speaking populations. Proc Natl Acad Sci U S A. 2012 May 29;109(22):8471-6. doi: 10.1073/pnas.1118760109. Epub 2012 May 14.

* Elhaik et al: Geographic population structure analysis of worldwide human populations infers theirbiogeographical origins. Nat Commun. 2014 Apr 29;5:3513. doi: 10.1038/ncomms4513.

* Elhaik et al: The GenoChip: a new tool for genetic anthropology. Genome Biol Evol. 2013;5(5):1021-31. doi: 10.1093/gbe/evt066.

* El-Sibai et al: Geographical structure of the Y-chromosomal genetic landscape of the Levant: a coastal-inland contrast. Ann Hum Genet. 2009 Nov;73(Pt 6):568-81. doi: 10.1111/j.1469-1809.2009.00538.x. Epub2009 Aug 16.

* Gaieskiet al: Genetic ancestry and indigenous heritage in a Native American descendant community in Bermuda. Am J Phys nAnthropol. 2011 Nov;146(3):392-405. doi: 10.1002/ajpa.21588. Epub 2011 Aug 24. Erratum in: Am J Phys Anthropol. 2012 Jul;148(3):486.

* Gan et al: Pinghua population as an exception of Han Chinese's coherent genetic structure. J HumGenet. 2008;53(4):303-13. doi: 10.1007/s10038-008-0250-x. Epub 2008 Feb 13.

* Haber et al: Afghanistan's ethnic groups share a Y-chromosomal heritage structured by historical events. PLoS One. 2012;7(3):e34288. doi: 10.1371/journal.pone.0034288. Epub 2012 Mar 28.

* Haber et al: Influences of history, geography, and religion on genetic structure: the Maronites in Lebanon. Eur J Hum Genet. 2011 Mar;19(3):334-40. doi: 10.1038/ejhg.2010.177. Epub 2010 Dec 1.

Tieteellisiä julkaisuja liittyen FTDNAn analysoimiin näytteisiin 5/7

19.5.2015 Marja Pirttivaara

* Javed et al: Recombination networks as genetic markers in a human variation study of the Old World. Hum Genet. 2012 Apr;131(4):601-13. doi: 10.1007/s00439-011-1104-8. Epub 2011 Oct 18.

* Jota et al: A new subhaplogroup of native American Y-Chromosomes from the Andes. Am J PhysAnthropol. 2011 Dec;146(4):553-9. doi: 10.1002/ajpa.21519. Epub 2011 Sep 13.

* Kang et al: Y-chromosome O3 haplogroup diversity in Sino-Tibetan populationsreveals two migrationroutes into the eastern Himalayas. Ann Hum Genet. 2012 Jan;76(1):92-9. doi: 10.1111/j.1469-1809.2011.00690.x. Epub 2011 Nov 23.

* Lu et al: Mitochondrial origin of the matrilocal Mosuo people in China. Mitochondrial DNA. 2012 Feb;23(1):13-9. doi: 10.3109/19401736.2011.643875.

* Martínez-Cruz et al: Evidence of pre-Roman tribal genetic structure in Basques from uniparentallyinherited markers. Mol Biol Evol. 2012 Sep;29(9):2211-22. Epub 2012 Mar 12.

* Martinez-Cruz et al: Y-chromosome analysis in individuals bearing the Basarab name of the firstdynasty of Wallachian kings. PLoS One. 2012;7(7):e41803. Epub 2012 Jul 25.

* Martínez-Cruz et al: Multiplex single-nucleotide polymorphism typing of the human Y chromosomeusing TaqMan probes. Investig Genet. 2011 May 31;2:13. doi: 10.1186/2041-2223-2-13.

* Melé et al: Recombination gives a new insight in the effective population size and the history of the oldworld human populations. Mol Biol Evol. 2012 Jan;29(1):25-30. doi: 10.1093/molbev/msr213. Epub 2011 Sep 1.

* Mendez et al: An African American Paternal Lineage Adds an Extremely Ancient Root to the Human Y Chromosome Phylogenetic Tree, Am J Hum Genet. 2013 March 7; 92(3): 454–459. doi: 10.1016/j.ajhg.2013.02.002Correction in: Am J Hum Genet. 2013 April 4; 92(4): 637.

Tieteellisiä julkaisuja liittyen FTDNAn analysoimiin näytteisiin 6/7

19.5.2015 Marja Pirttivaara

* Parida et al: Minimizing recombinations in consensus networks for phylogeographic studies. BMC Bioinformatics. 2009 Jan 30;10 Suppl 1:S72. doi: 10.1186/1471-2105-10-S1-S72.

* Parida et al: Estimating the ancestral recombinations graph (ARG) as compatible networks of SNP patterns. J Comput Biol. 2008 Nov;15(9):1133-54. doi: 10.1089/cmb.2008.0065.

* Qin et al: A mitochondrial revelation of early human migrations to the Tibetan Plateau before and afterthe last glacial maximum. Am J Phys Anthropol. 2010 Dec;143(4):555-69. doi: 10.1002/ajpa.21350.

* Rębała et al: Contemporary paternal genetic landscape of Polish and German populations: from earlymedieval Slavic expansion to post-World War II resettlements. Eur J Hum Genet. 2013 Apr;21(4):415-22. doi: 10.1038/ejhg.2012.190. Epub 2012 Sep 12.

* Ridge et al: Mitochondrial genomic variation associated with higher mitochondrial copy number: theCache County Study on Memory Health and Aging BMC Bioinformatics. 2014; 15(Suppl 7): S6. Publishedonline 2014 May 28. doi: 10.1186/1471-2105-15-S7-S6.

* Ridge et al: Mitochondrial Genomic Analysis of Late Onset Alzheimer’s Disease Reveals ProtectiveHaplogroups H6A1A/H6A1B: The Cache County Study on Memory in Aging PLoS One. 2012; 7(9): e45134. Published online 2012 September 17. doi: 10.1371/journal.pone.0045134.

* Rocca et al: Discovery of Western European R1b1a2 Y Chromosome Variants in 1000 Genomes Project Data: An Online Community Approach PLoS One. 2012; 7(7): e41634. Published online 2012 July 24. doi: 10.1371/journal.pone.0041634Correction in: PLoS One. 2012; 7(8): 10.1371/annotation/5d0f79cd-30a5-45b7-aaff-4e27892a9d20.

* Rosset et al: Maximum-likelihood estimation of site-specific mutation rates in human mitochondrial DNA from partial phylogenetic classification. Genetics. 2008 Nov;180(3):1511-24. doi: 10.1534/genetics.108.091116. Epub 2008 Sep 14.

Tieteellisiä julkaisuja liittyen FTDNAn testaamiin näytteisiin 7/7

19.5.2015 Marja Pirttivaara

* Schurr et al: Clan, language, and migration history has shaped genetic diversity in Haida and Tlingitpopulations from Southeast Alaska. Am J Phys Anthropol. 2012 Jul;148(3):422-35. doi: 10.1002/ajpa.22068. Epub 2012 May 1.

* Tofanelli et al: Mitochondrial and Y chromosome haplotype motifs as diagnostic markers of Jewishancestry: a reconsideration. Front Genet. 2014; 5: 384. Published online 2014 November 10. doi: 10.3389/fgene.2014.00384

* Vilaret al: Genetic diversity in Puerto Rico and its implications for the peopling of the Island and theWest Indies. Am J Phys Anthropol. 2014 Nov; 155(3):352-68. doi: 10.1002/ajpa.22569. Epub 2014 Jul17. * Wang et al: Evaluating the Y chromosomal timescale in human demographic and lineage datingInvestig Genet. 2014; 5: 12. Published online 2014 September 10. doi: 10.1186/2041-2223-5-12.

* Yang et al: Positive selection on mitochondrial M7 lineages among the Gelong people in Hainan. J Hum Genet. 2011 Mar;56(3):253-6. doi: 10.1038/jhg.2010.165. Epub 2010 Dec 23.

* Yan et al: An updated tree of Y-chromosome Haplogroup O and revised phylogenetic positions of mutations P164 and PK4. Eur J Hum Genet. 2011 Sep;19(9):1013-5. doi: 10.1038/ejhg.2011.64. Epub2011 Apr 20. Erratum in: Eur J Hum Genet. 2011 Sep;19(9):1018. [Multiple collaborator names added].

* Zalloua et al: Identifying genetic traces of historical expansions: Phoenician footprints in theMediterranean. Am J Hum Genet. 2008 Nov;83(5):633-42. doi: 10.1016/j.ajhg.2008.10.012. Epub 2008 Oct 30.

* Zalloua et al: Y-chromosomal diversity in Lebanon is structured by recent historical events. Am J Hum Genet. 2008 Apr;82(4):873-82. doi: 10.1016/j.ajhg.2008.01.020. Epub 2008 Mar 27.

© Marja Pirttivaara19.5.2015

Tulokset: MyFTDNA

Y-DNA STR eli markkeritulokset

© Gene by Gene lupa19.5.2015

Y-DNA SNP- eli snippitulokset

© Gene by Gene lupa19.5.2015

Y-DNA N-M231 ISOGG haplopuu 2015• • • • • • • • N1c1a1a1b L1022• • • • • • • N1c1a1a2 Z1936, CTS10082• • • • • • • • N1c1a1a2* -• • • • • • • • N1c1a1a2a Z1925, Z1935• • • • • • • • • N1c1a1a2a* -• • • • • • • • • N1c1a1a2a1 CTS1737/Z1927• • • • • • • • • • N1c1a1a2a1* -• • • • • • • • • • N1c1a1a2a1a Z1941• • • • • • • • • • • N1c1a1a2a1a* -• • • • • • • • • • • N1c1a1a2a1a1 Z1940• • • • • • • • N1c1a1a2b L1034• • • N1c2 F1008/L666• • • • N1c2* -• • • • N1c2a M128• • • • N1c2b P43• • • • • N1c2b* -• • • • • N1c2b1 P63• • • • • N1c2b2 L665

N M231/Page91, M232/M2188• N* -• N1 CTS11499/L735/M2291• • N1* -• • N1a P189.2• • N1b L732• • • N1b* -• • • N1b1 L731, L733• • N1c L729.1/M2087.1/Z15.1/Z548.1• • • N1c* -• • • N1c1 M46/Page70/Tat, L395/M2080, P105• • • • N1c1* -• • • • N1c1a M178, P298• • • • • N1c1a* -• • • • • N1c1a1 L708/Z1951, F4325/L839• • • • • • N1c1a1* -• • • • • • N1c1a1a L392, L1026/Z1973• • • • • • • N1c1a1a* -• • • • • • • N1c1a1a1 CTS2929/VL29• • • • • • • • N1c1a1a1* -• • • • • • • • N1c1a1a1a L550/S431• • • • • • • • • N1c1a1a1a* -• • • • • • • • • N1c1a1a1a1 L1025• • • • • • • • • • N1c1a1a1a1* -• • • • • • • • • • N1c1a1a1a1a M2783• • • • • • • • • • • N1c1a1a1a1a* -• • • • • • • • • • • N1c1a1a1a1a1 L149.2, L551• • • • • • • • • • • N1c1a1a1a1a2 L591• • • • • • • • • • • N1c1a1a1a1a3 L1027• • • • • • • • • • • N1c1a1a1a1a4 FGC13372/Z16975

9.4.2015 http://www.isogg.org/tree/ISOGG_HapgrpN.html

M269

P311P312

Z195

L21

U152

U1

06

L4 8

U1 0 6

P3 1 1 L2 1

M2 6 9 L1 1

P3 1 2 Z1 9 5

U1 5 2

Post-Neolithic Centers of

Renewed Expansion

SRY2627

M222

Prof. Michael Hammer, Origins of R-M269 Diversity in Europe, Houston 11.2013

Haploryhmän R-M269 leviäminen Euroopassa

19.5.2015

Bourbonin suvun DNA 1/4

Larmuseaus et al: Genetic genealogy reveals true Y haplogroup of House of Bourbon contradicting recent identification of the presumed remains of two French Kings, Eur J of Human Genetics, s (2014) 22, 681–68Copyrights for the use in this presentation from RightsLink

Henrik IV:n kuva: Wikipedia

19.5.2015 Marja Pirttivaara

Bourbonin suvun DNA 2/4

Larmuseaus et al: Genetic genealogy reveals true Y haplogroup of House of Bourbon contradicting recent identification of the presumed remains of two French Kings, Eur J of Human Genetics, s (2014) 22, 681–68Copyrights for the use in this presentation from RightsLink

19.5.2015 Marja Pirttivaara

Bourbonin suvun DNA 3/4

Larmuseaus et al: Genetic genealogy reveals true Y haplogroup of House of Bourbon contradicting recent identification of the presumed remains of two French Kings, Eur J of Human Genetics, s (2014) 22, 681–68. Copyrights for the use in this presentation from RightsLink

19.5.2015 Marja Pirttivaara

Bourbonin suvun DNA 4/4

• Ranskalaisen Bourbon-suvun Y-DNA saatiin konstruoitua (tn R1b1b2a1a1b* R-Z381*).

• Oletetut Henrik IV:n pään ja Ludwig XVI:n verinäytteen Y-DNA eivät täsmänneet konstruoidun Bourbon-Y-DNAn kanssa.

• Pään mtDNA (U5b*) ei täsmää elävien henkilöiden näytteistä johdettuun kuninkaan äidin mtDNAhan (H).

• Joko näytteet olivat kontaminoituneet tai henkilöllisyydet eivät täsmää.

• Osoittaa vertailun tärkeyden. Yksi näyte ei riitä.

19.5.2015 Marja Pirttivaara

Larmuseaus et al: Genetic genealogy reveals true Y haplogroup of House of Bourbon contradicting recent identification of the presumed remains of two French Kings, Eur J of Human Genetics, s (2014) 22, 681–68Copyrights for the use in this presentation from RightsLinkhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC3992573/pdf/ejhg2013211a.pdf

Dienekes blog: House of Bourbon belonged to Y-haplogroup R1b1b2a1a1b* (R-Z381*) http://dienekes.blogspot.fi/2013/10/house-of-bourbon-belonged-to-y.html

Etiikka ja yksityisyys

• Suomen Sukututkimusseurankäytännesäännöt

• Geneettisen sukututkimuksenkansainväliset standrdit 2015

• Ihmisellä on oikeus tietää ja olla tietämättä

• DNAn omistusoikeus

Marja Pirttivaara19.5.2015

Testien tilaus & lisätietoa

• Family Tree DNA Suomi DNA projekti– https://www.familytreedna.com/groups/finland/about/background

– https://www.familytreedna.com/group-join.aspx?&group=Finland&vGroup=Finland

• International Society of Genetic Genealogy ISOGGhttp://www.isogg.org

• SNPedia ja Promethease http://www.snpedia.com

• Suomen Sukututkimusseura luentoja, mentorointipalvelu jnehttp://www.genealogia.fi

Marja Pirttivaara19.5.2015

Kiitos!

marja.pirttivaara @ gmail.com Twitter: Marja_P

Bloggausta: www.genealogia.fiKalvoesityksiä jaossa: http://www.slideshare.net/MarPir

LinkedIn: https://fi.linkedin.com/pub/marja-pirttivaara/0/39/158

19.5.2015 © Marja Pirttivaara 30