TEESDALE U3A GENEALOGY GROUP

An Introduction to Genetic Genealogy

TEESDALE U3A GENEALOGY GROUP

DNA Animation

GENETIC GENEALOGY

What can genetic genealogy do for you ?

Richard III identification?

Find unknown cousins? YES Provided they have also had a genealogical test

Prove/disprove a relationship? YES, YES, YES

Provided they have also had a genealogical test

Or

You can persuade them to have a test

Or

They decide to have a test

Deep ancestry (ethnic origins) YES

Avoid all that time consuming traditional research? NO

BASIC BIOLOGY

The Genome – 23 pairs of chromosomes define a human body

Every cell in that body contains those 23 pairs except

-The female egg

-The male sperm

Each chromosome consists of a long DNA molecule

GENETIC GENEALOGY

The Animated Genome from Unlocking Life's

Code

Deoxyribonucleic acid – DNA

The famous double helix

Straightened out it can be

represented by a sequence

of four letters

CATCCGACTGA….

Duplicated into every cell

of our body

Occasional errors in

duplication – mutations

GENETIC GENEALOGY

If the mutation is in the germ cell (ie egg or

sperm) then it is passed to the child and

duplicated in the DNA of every cell of the child

and passed from the child to the child’s

descendants and from them to their descendants

and so on.

Genetic analysis can identify the mutations. Two

types of mutations are analysed for genetic

genealogy purposes – SNPs and STRs.

DNA MUTATIONS – SNPS

Single-nucleotide polymorphism - SNP

DNA MUTATIONS – STRS

Short Tandem Repeat - STR

GENETIC GENEALOGY

In practice mutations (those now identified) usually only occur only

every few generations. Genetic testing looks for these mutations and

the pattern of the mutations.

GENETIC GENEALOGY

Learn.Genetics – The Four Types of DNA –

Autosomal DNA

Y-DNA

mtDNA

X-DNA

LOST ANCESTORS

Luke Jostins -

Each generation we go back is expected to halve

the amount of autosomal genetic material an

ancestor gives to you.

As this material inherited in chunks, we only

have to go back ~9 generations until it is quite

likely that a specific ancestor contributed zero of

your autosomal material to you

What does he mean by ‘quite likely’?

HOW MANY ANCESTORS?

Generation

s

Ancestors Date

1 2 parents 1920

2 4 grandparents 1890

3 8 1860

4 16 1830

5 32 1800

6 64 1770

7 128 1740

8 256 1710

9 512 1680

10 1024 1650

11 2048 1620

12 4096 1590

13 8192 1560

LOST ANCESTORS

11 generations

Gen. Mean

%

%

with

zero

1 50 0

2 25 0

3 13 0

4 6.3 0

5 3.1 0

6 1.6 0

7 0.78 4.7

8 0.39 14

9 0.2 32

10 0.098 54

11 0.049 71

GENETIC GENEALOGY

GENETIC GENEALOGY

In practice mutations (as yet now identified) usually only occur only

every few generations. Genetic testing looks for these mutations and

the patern of mutations.

Genetic distance is the number of mutations separating individuals.

DNA MUTATIONS – SNPS

Single-nucleotide polymorphism - SNP

DNA MUTATIONS – STRS

Short Tandem Repeat - STR

GENETIC GENEALOGY

Haplotype

effectively the set of STR markers

relatively frequent mutations

historical timescale

Only analysed for Y-DNA

Haplogroup

effectively the set of SNP markers

Infrequent mutations

Pre-history timescale – Deep Ancestry

Clades – sub-groups within the haplogroup

GENETIC GENEALOGY - HAPLOTYPE

Early Y-DNA tests looked at 12 STR markers

FT-DNA now offer 37, 67 and 111 marker tests

Swindle project

GENETIC GENEALOGY

ANCESTRAL EVE (MTDNA)

Mitochondrial Eve - 100,000 – 200, 000 years ago

Y-chromosomal Adam – 180,000 – 580, 000 years ago

GENETIC GENEALOGY – HAPLOGROUPS

More detailed image

GENETIC GENEALOGY – HAPLOGROUPS

GENETIC GENEALOGY

– HAPLOGROUPS AND CLADES

DNA TESTING KIT

Cheek swab - FTDNA Saliva tube - Ancestry

Same for atuosomal DNA, Y-DNA and mtDNA

GENETIC GENEALOGY

Order (and pay for!) the kit.

When kit arrives by post then provide the sample and complete the identification process.

Return the kit to the analysis company (by post).

Wait for the analysis process to complete – 6-8 weeks.

Analysis company will contact you with the results and a list of matches (potential relatives) and contact details (from their database)

You decide, on the basis of conventional genealogy, which of the potential relatives to contact – they may contact you

As more people take the test you will be notified of new matches

You can usually transfer the results to other companies or open-source databases – or retest.

GENEALOGICAL TESTING COMPANIES

(NOT PATERNITY TESTING) 23andMe (adoption, deep ancestry, ethnicity, genealogy, health)

African Ancestry (deep ancestry)

AfricanDNA (FTDNA affiliate) (deep ancestry, ethnicity, genealogy)

AncestrybyDNA (deep ancestry, ethnicity)

AncestryDNA, a subsidiary of Ancestry.com (adoption, ethnicity, genealogy)

BritainsDNA (formerly Ethnoancestry) (deep ancestry, ethnicity)

CymruDNAWales - see BritainsDNA

DNA Ancestry and Family Origin (FTDNA affiliate in the Middle East) (adoption, deep ancestry, full mtDNA sequencing, genealogy)

DNA Consultants (deep ancestry, ethnicity)

DNA Spectrum (ethnicity)

DNA Tribes (ethnicity)

DNA Worldwide (FTDNA partner (deep ancestry, ethnicity, genealogy, paternity, relationship)

Ethnoancestry - see BritainsDNA

Family Tree DNA (adoption, deep ancestry, full mtDNA sequencing, genealogy, identity, relationship, Y chromosome sequencing)

Full Genomes Corporation (whole genome sequencing, Y-chromosome sequencing)

Futura Genetics (health)

Gene by Gene - the parent company of Family Tree DNA which now incorporates the companies previously known as DNA Traits, DNA DTC and DNA Findings (research, health, exome sequencing, whole genome sequencing)

Genebase (deep ancestry, genealogy)

Genographic Project (deep ancestry, ethnicity)

iGENEA (FTDNA affiliate) (deep ancestry, genealogy)

IrelandsDNA - See BritainsDNA (formerly Ethnoancestry)

MyDNA Global - a new name for BritainsDNA

Oxford Ancestors (deep ancestry, genealogy)

Roots for Real (deep ancestry, ethnicity, genealogy)

ScotlandsDNA - (formerly Ethnoancestry) (deep ancestry, ethnicity)

Sorenson Genomics (laboratory services)

Sure Genomics (whole genome sequencing)

Centrillion Biosciences (aka TribeCode) (deep ancestry, ethnicity)

YorkshiresDNA - See BritainsDNA (formerly Ethnoancestry)

YSEQ (custom Y-SNPs, Y-STRs, SNP panels)

GENEALOGICAL TESTING ORGANISATIONS

(NOT PATERNITY TESTING)

FTDNA

Y-STR 37 marker $169, 67 marker $268, 111 marker $359

Big Y – SNP $575

Autosomal (Family Finder) $99

mtDNA mtDNA Plus $69, mtFull Sequence $199

Ancestry

Autosomal £99

The Genographic Project (National Geographic) Autosomal – deep ancestry $150

23andMe - autosomal £125 – Genetic Health Factors inc. p&p

BritainsDNA (Chromo2) £250 Y-DNA, mtDNA and autosomal - Beware

http://isogg.org/wiki/Autosomal_DNA_testing_comparison_chart

GENETIC GENEALOGY - LINKS

Beginners Guide to Genetic Genealogy -Wheaton

Surname Resources

The Animated Genome from Unlocking Life's

Code

Contexo – DNA Basics

Journey of Man Interactive Map

cruwys.blogspot.co.uk

Learn.Genetics (University of Utah)

GENETIC GENEALOGY - DEFINITIONS

Allele: One of the variant forms of a gene at a particular locus, or location, on a chromosome. Different alleles produce variation in inherited characteristics. For STR markers, each allele is the number of repeats of the short base sequence.

Base Pair: Two bases that form a "rung of the DNA ladder." A DNA nucleotide is made of a molecule of sugar, a molecule of phosphoric acid, and a molecule called a base. The bases are the "letters" that spell out the genetic code. In DNA, the code letters are A, T, G, and C, which stand for the chemicals adenine, thymine, guanine, and cytosine, respectively. In base pairing, adenine always pairs with thymine, and guanine always pairs with cytosine.

Chromosome: One of the threadlike "packages" of genes and other DNA in the nucleus of a cell.

Centimorgan: The centiMorgan is equal to a 1% chance that a marker at one genetic locus on a chromosome will be separated from a marker at a second locus due to crossing over in a single generation.

DNA: The chemical inside the nucleus of a cell that carries the genetic instructions for making living organisms.

DYS#: D=DNA, Y=Y chromosome, S=a unique DNA segment. A label for genetic markers on the Y chromosome. Each marker is designated by a number, according to international conventions. At present, virtually all the DYS designations are given to STR markers (a class often used in genetic genealogy).

Gene: The functional and physical unit of heredity passed from parent to offspring. Genes are pieces of DNA, and most genes contain the information for making a specific protein.

Genome: All the DNA contained in an organism or a cell, which includes both the chromosomes within the nucleus and the DNA in mitochondria.

GENETIC GENEALOGY - DEFINITIONS

Locus: A point in the genome, identified by a marker, which can be mapped by some means. It does not necessarily correspond to a gene. A single gene may have several loci within it (each defined by different markers) and these markers may be separated in genetic or physical mapping experiments. In such cases, it is useful to define these different loci, but normally the gene name should be used to designate the gene itself, as this usually will convey the most information.

Marker: Also known as a genetic marker, a segment of DNA with an identifiable physical location on a chromosome whose inheritance can be followed. A marker can be a gene, or it can be some section of DNA with no known function. Because DNA segments that lie near each other on a chromosome tend to be inherited together, markers are often used as indirect ways of tracking the inheritance pattern of genes that have not yet been identified, but whose approximate locations are known.

Microsatellite: Repetitive stretches of short sequences of DNA used as genetic markers to track inheritance in families.

Mutation: A permanent structural alteration in DNA.

Short Tandem Repeats (STR): A genetic marker consisting of multiple copies of an identical DNA sequence arranged in direct succession in a particular region of a chromosome. Occasionally, one will mutate by the gain or loss of one repeat. (Also known as microsatellite)

A MEDICAL APPLICATION

– FROM TODAY’S NEWS (7 JULY 2016)

Inherited genes ‘have more prominent role in

prostate cancer’

Gene BRCA2 – codes for a repair protein.

12% of men with advanced prostate cancer have

defective genes – 5% BRCA2, 7% other

1 in 8 men will get prostate cancer

RICHARD III IDENTIFICATION

http://www.le.ac.uk/richardiii/science/resultsofdna.html

RICHARD III IDENTIFICATION

1) Richard III was killed, aged 32, at the Battle of Bosworth, on the 22nd of August 1485, and after the battle he was brought back to Leicester and buried in the choir of the church of the Grey Friars in Leicester.

2) A contemporary account speaks of him having one shoulder higher than the other. In 2012, we excavated the remains of a male, aged 30-34, with multiple battle injuries and severe scoliosis.

3) Radiocarbon and stable isotope analysis showed that the remains dated from the right period and that this person had a high-status diet.

4) Finally, DNA analysis of mitochondrial DNA from the skeletal remains showed a match with two living female-line relatives.

5) While the Y chromosome analysis did not show a match, this is not particularly surprising given that we know that false-paternity can occur.

37 marker match Genetic Distance 4

Donald Matthew McDonald

25 marker matches (42 results)

GD Name Most distant

ancestor

Haplotype Match

date

1 McDonald (Ireland) R-M269 7/6/2015

2 Larry Dunnaway John Dunaway R-M269

6/20/2016

2 Stephen Edward

Dennis

James Dennis

b1802

R-M269

5/19/2016

2 Mark Dunham Deacon John Dunham

b1588

R-M269

2/21/2016

2 John Mason Lee John Lee b 1755 R-M269 2/9/2016

•12 Marker matches - nil

SWINDLE (SWINDELL)Y-DNA PROJECT

Seven members of the project almost certainly belong

to the same genetic family.

Four of these are an exact match on the tested DNA

markers and the other three have strong similarities.

Four are of American descent from the Swindells of Hyde

County, North Carolina (almost certainly descended from

the Thomas Swindall who settled in North America

around 1650).

Three of these are an exact match to a Swindells who was

born in England and whose ancestry can be traced back to

Cheshire in the 18th century.

Of the three with some haplotype differences, one line is

descended from a Swindells in County Fermanagh, Ireland,

one from a Swindell in Derby, England and the third from

the Hyde County Swindells.

SWINDLE (SWINDELL) Y-DNA PROJECT

Two more members of the project are a close genetic match to each other but of distinctly different genetic family from the group above. One ancestral line goes directly back to the Timothy Swindall who settled on North America about 1675 and the other to a James Swindle who was born about 1801 in North Carolina. It is difficult to be certain about James’ ancestry from the conventional genealogical evidence but the DNA evidence says that he must also be a descendant of Timothy Swindall.

A third line is descended from Tinker Swindell, an African slave in Columbus County, North Carolina at the beginning of the 19th century.

Another definitely unrelated line is said to originate from Germany but I have been unable to trace this line as yet.

And finally, my own genetic Swindle family commences with Joseph Swindale who was the illegitimate son of Sarah Swindle, baptised in 1821 in Northumberland, England. Through his mother I can trace my ancestry back to Richard Swindell who would have been born before 1650 and lived near Hexham in Northumberland.