genetic genealogy, history and prehistory, and dna ancestry tracing “dna and your health”...
TRANSCRIPT
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Genetic Genealogy, History and Prehistory, and DNA Ancestry Tracing
“DNA and Your Health” Seminar
Presented by
Donald N. Yates, Ph.D.
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A funny thing happened to me on the way to the synagogue
Rabbi Yitzak LevyRabbi Yitzak Levy Rabbi Michael LernerRabbi Michael Lerner
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Michael HammerMichael Hammer
Family Tree DNA, Houston
University of Arizona
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Skorecki K, Selig S, Blazer S, Bradman R, Bradman N, Waburton PJ, Ismajlowicz M, Hammer MF (Jan. 1997).“Y chromosomes of Jewish priests.” Nature 2;385(6611):32.
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Cohen Modal Haplotype
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Surnames and Y Chromosome
Bryan Sykes
Oxford Ancestry
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Brief History of DNA Testing
• Gregor Mendel (19th cent.)• George Darwin and cousin
marriage• James Watson & Francis
Crick (double helix, 1953)• Biotechnology (1970s-80s)• Cavalli-Sforza • Human Genome Project• Cohen gene (1997)
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Rosalind Rosalind FranklinFranklin
“The Dark Lady “The Dark Lady of DNA”of DNA”
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Review 1
• George Darwin
• Double Helix DNA
• Where it all started
• Cohen Modal Haplotype
• Oxford Ancestors
• Family Tree DNA
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DNA Testing Today
• Y Chromosome
• Mitochondrial DNA
• Autosomal
• Other
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Why Do a DNA Test?
• Determine if two people are related • Determine if two people descend from the same
ancestor • Find out if you are related to others with the same
surname • Prove or disprove your family tree research • Go beyond brick wall in genealogy• Provide clues about your ethnic origin • To find out about genetic risk factors in health
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Buccal Swab
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Short Tandem Repeats (STRs)
the repeat region is variable between samples while the flanking regions where PCR primers bind are constant
7 repeats
8 repeats
AATG
Homozygote = both alleles are the same length
Heterozygote = alleles differ and can be resolved from one another
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ABI Prism 310 Genetic Analyzer
capillary
Syringe with polymer solution
Autosampler tray
Outlet buffer
Injection electrode
Inlet buffer
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PCRPCRPolymerase
Chain
Reaction
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Genomics Laboratory
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M8 + F8 M9 + F9 MA + FA MB + FB MC + FC MD + FD ME + FE MF + FF I I I I I I I I M4 …. + …. F4 M5 …. + …. F5 M6 …. + …. F6 M7 …. + …. F7 I I I I M2 …. …. …. + …. …. …. F2 M3 …. …. …. + …. …. …. F3 GrandFather I I GrandMother I I M1 …. …. …. …. …. …. …. + …. …. …. …. …. …. …. F1 Father I Mother I I I I Brother M0 F0 Sister
Inheritance ChartInheritance Chart
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Branches and Twigs
Haplogroups are the descents or mega-families that characterized early human
migrations. They are normally associated with geographical regions. Examples: R1b
(Western Atlantic European), I (northern Europe), J (Jewish, Middle Eastern).
Haplotype One person's set of values for the markers that have been tested. Two individuals that
match on all markers but one, have two distinct haplotypes. (One-step mutation)
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Atlantic Modal Haplotype
DYS388 12DYS390 24DYS391 11DYS392 13DYS393 13
DYS394 14 (also known as DYS19)
If you have one mutation in either direction, then you are AMH 1.15+. The AMH 1.15
haplotype is also referred to as the Atlantic Modal Cluster or AMC. Generally 1.15+ puts
you in haplogroup 1 (H1), but not always.
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Y Chromosome
• Males: XY• Females: XX• Father to Son• Follows Surname• Y STRs: Short Tandem Repeats• Mutation rate fast• YHRD, Ysearch• Non-paternity events• 12 . . . 24 . . . 37 . . . 63 . . . 98• Surname Projects
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Review 2
• Chromosome
• Male vs. female
• PCR
• STR
• Haplogroup
• Haplotype
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Mitochondrial DNA
• What is it• Why is it useful• Mutations• Lineages
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J N
H
I
A, B, C, D, X
K
Mitochondrial HaplogroupsMitochondrial Haplogroups
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PhylogenyPhylogeny
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Review 3
• D loop
• HVR I and HVR 2
• Cambridge Concordance
• Vincent Macaulay
• Phylogeny
• Haplogroup, haplotype
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Autosomal DNA
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Autosomal = All Ancestral Alleles
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Base Pairs
• Adenine
• Guanine
• Cytosine
• Thymine
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Chromosomes
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Recombinant DNA
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Uses of Autosomal Tests
• Paternity– Gene Tree & Terry Carmichael
• Relationship testing (siblings adopted)• Police work – CODIS profiles, OmniPop• DNA Fingerprint Test• DNAPrint – biogeographical markers• Inherited disease
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Examples of Autosomal Tests
• DNA Fingerprint Test• Eurasian1.0• EURO DNA 2.0• SNP testing• Genetic screening• Genome-wide genetic research
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Review 4
• Autosomal• Recombination• Allele• Ancestry Informative Marker• DNAPrint• DNA Fingerprint Test• Base pairs• STRs
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Questions and Discussion
• DNA Testing
• Y chromosome
• mtDNA
• autosomal