DNA in Genealogy Research

Brenda Carbon

June 8, 2016

Agenda

■ Introduction to DNA

■ What are the DNA test types?

– What are the benefits and uses for each?

■ What companies offer these tests?

– What are the pros and cons to each?

■ The ordering and sampling process

■ Results and examples

– What do my results mean?

– How do I use the websites to review my results and find my matches?

■ Other Tips and Conclusion

Introduction to DNA Testing

Are you Beatrice the Biologist or Gino the Genealogist?

Introduction to DNA■ DNA makes every species and every individual person who they are. Unless

you are an identical twin, no one has the exact same DNA as you do.

■ DNA is the instruction manual for your body to make the many different proteins required for your body to function.

■ DNA is a large double helix structure.

– Each sequence and order of the A/T and C/G bonds is important for making up the 23 pairs of chromosomes and the shorter segments, called genes that are responsible for specific functions.

■ When genes are missing or altered (called mutations) they can cause genetic disorders.

■ The exact order of these bonds becomes important in advanced analysis of DNA.

– The 23rd chromosome is different for males and females. Females have two X chromosomes and males have one X and one Y chromosome.

■ Y chromosomes are only present in males and are passed from father to son down the descendant line.

■ The other 22 chromosomes are called autosomes.

Types of DNA

DNA in the Cell

■ Nuclear DNA

– All 23 chromosomes are in the nucleus of each cell

– Does not preserve well over time

■ Mitochondrial DNA

– DNA in the mitochondria structure in the cytoplasm of each cell

– Mitochondrial DNA is in the egg, not the sperm.

– The mitochondria is passed on from mother to each of her children and represents your direct maternal line.

– Mitochondrial DNA is very stable and is used to study the DNA of archaeological human remains.

Benefits and Limitations of DNA Testing

■ Works only by comparing the DNA of one tester to the DNA of others

■ Can confirm or eliminate ancestral lines

■ Can give direction to research

– For example, what regions of the world could my ancestors be from?

– What could my migratory path be?

– Who should I contact next to gain or compare documentary evidence?

■ Can help identify previously unknown ancestors and relatives

■ Can NOT identify a specific ancestor by itself

■ Can predict ethnicity and maternal and paternal migratory paths

■ It is one piece of evidence which, when used with documentary evidence, can support suspected lines or identify unknown lines

■ If your ancestors came to the US more recently, you may have less to compare with since may of the companies limit their testing countries to US and British countries.

Stay tuned: I will show examples of these benefits later in the presentation.

Overview of DNA Genealogical Testing

■ https://youtu.be/yGx3xyiR9rA?t=14

■ Genealogy Gems Website Link

http://lisalouisecooke.com/

■ Link to one of her DNA guides

http://shop.lisalouisecooke.com/products/autosomal-dna-guide-laminated

– Both men and women can be tested

– Tests your nuclear DNA and represents ancestors on all sides of your family, maternal and paternal.

– More challenging to trace specific ancestors because it is not known which part of what chromosome came from which parent or grandparent line, etc.

– We get ½ of each parents DNA and they get ½ from each of their parents so we get decreasing amounts of DNA from each generation.

– After 5 – 8 generations, you may not have DNA from any one ancestor.

– Great test for a broad brush of ancestors and I have found quite a few close and distant relatives, but most of my family has been in the US since the 18th century.

– Test the oldest ancestors first

– Testing your siblings is advised since no two children inherited the same amount of DNA from each ancestor. This will capture as much of your families autosomal DNA.

Autosomal DNA Testing

Y DNA Testing■ Tests your direct paternal line because Y DNA is passed on intact from father to son

– The only exception is mutations which can be important in advanced analysis.

■ Tests specific markers not the entire Y chromosome.

– You can select test packages starting with 12 markers

– Recommend testing at least 37 markers initially

■ The testing companies usually store your DNA for future testing so if needed, you can order additional testing in the future

■ Provides your projected paternal haplogroup which indicates your ancient past

– Haplogroups are sequences within DNA that can be used to define genetic populations

– Regions where your long time paternal direct ancestor is from

– Your direct paternal proposed migratory path from “ancestral Adam”

– Does not tell you anything about any maternal or other paternal lines

■ The websites compare your results to other matches and indicate how close your DNA matches.

– This is called genetic distance. A “0” means the markers that you tested are identical to the other person tested. And it is very likely that you are related.

Stay tuned: We will show examples of migratory paths and ancestral regions later in this program.

mtDNA (Mitochondrial) Testing

■ Both men and women can be tested

■ Provides your projected maternal haplogroup which indicates your ancient past

– Regions where your long time direct maternal ancestors are from

– Your proposed migratory path from “ancestral Eve”

■ Is rarely helpful in finding common ancestors in general testing

– I do not look at matches from my mtDNA testing as a rule

– The websites also report genetic distance and you should not focus on any matches >2.

■ Is most useful in solving a particular genealogical problem, which will likely require testing additional testing.

– i.e. A man married two wives and had many children. The death of the first wife and the marriage date to the second wife is not known. Which daughters are from the which wife?

Stay tuned: We will define and discuss Ancestral Adam and Eve when we look at migratory paths later in this program.

The major testing companies■ Ancestry DNA

http://dna.ancestry.com/?o_iid=69286&o_lid=69286&o_sch=Web+Property

– Offers autosomal testing only ($99) – Look for periodic sales

– Reportedly not as trustworthy on storage of samples

– Does not provide raw DNA data for advanced analysis

– Easy to understand and review your matches

■ Predicts match distances in “cousin” language and confidence levels

■ If both of your trees are online, the green leaf “hint” will show you common ancestors and that portion of the two trees that link and your relationship to the other tester

■ Largest database of people that tested abt 1.5 M

■ Family Tree DNA

https://www.familytreedna.com/

– Offers all three tests

■ Family Finder (autosomal test $99), Y37 DNA ($169), mtDNA ($199)

– Smallest database of people tested

– Can import your trees from Ancestry, 23 and Me, and the National GenographicProject.

– It costs $39 to unlock your matches from tree imports

– Good advanced analysis tools

The major testing companies (cont’d)■ 23 and Me

https://www.23andme.com/?utm_source=bing&utm_medium=cpc&utm_campaign=Search-Branded&utm_content=23c_Search_Paid_Brand

– Offers autosomal testing only ($199)

– Best ethnicity predictor (broken down by chromosome)

– Tests for 60 plus health and trait indicators

■ Examples are Cystic Fibrosis, Tay-Sachs, and Sickle Cell Anemia carriers

■ National Genographic Project

https://genographic.nationalgeographic.com

– Offers mitochrondial testing with a free update into Family Tree DNA ($199)

■ Watch for sales!

– Great explanation of haplogroups and migratory paths

■ Testing recommendations

– Unless you are also interested in the health indicators, do your autosomal testing with Ancestry and then import the raw DNA data into Family Tree DNA.

– If you have a direct male ancestor, test with the oldest one with the Y DNA test in Family Tree DNA.

– Test your oldest ancestors while they are alive as a high priority.

– After you receive and review your results, prioritize any additional testing you want to do.

The Ordering and Sampling Process

The Ordering and Sampling Process

■ Order your kit on the appropriate website and ship it to the person to be tested

– The kit contains everything you need for sampling, storage, and mailing

– Easy instructions for either a cheek swab or saliva, depending on the company

– The samples are all identified by a kit number for privacy and security

■ Make sure that person provides the kit identifier to you when they receive it

■ Enter the kit number as instructed

– Important: Save the kit number where it can be easily retrieved forever.

■ The company will provide a log-on to their website.

– You can then link the kit to the tester.

– You can be the administrator if you are not the person being tested

■ You can then see their results

■ The results will take about 6 – 8 weeks.

– You can track the progress and will also receive e-mails

Preparing for your Results

■ Update your profile on the testing website

■ Update information on your ancestors with as much information as possible

– Oldest paternal ancestor

– Oldest maternal ancestor

– All surnames

– Provide dates and locations if known

■ Upload your family tree, if you are using an online program

– If your tree is in Ancestry, you will link the test kit to the correct tree and person tested

■ Use online help, if needed.

■ After you results are available, you can then load the raw DNA data into other websites such as Family Tree DNA.

– The sending and receiving websites will provide instructions.

– Important: You may get new identification numbers on these websites. If so, please save this information along with which person this links with.

Your Results are completed! Now what?

Log in to your testing site and review your results!

■ Ethnicity and Haplogroups

■ Migratory Paths

■ Matches

– Start with closest matches first

– Matches continue to be updated

■ Communicate with administrators and testers

– Share information and documentation

– Don’t get discouraged if not all people respond

Ancestry DNA Home Page Example

Ancestry DNA Ethnicity Examples

Migratory Paths

Mitochondrial Adam and Eveare the most recent common ancestor (MRCA) of all currently living humans. These are the most recent humans from whom all living humans today descend. They are estimated to have lived between 100,000 and 200,000 years ago.

Maternal Migratory Path Examples

Migratory Path Example Heatmap Example

Maternal migratory path in National Genographic Project

https://genographic.nationalgeographic.com/results/yo

urregionalancestry

Hominin Ancestry – National GenographicProject

In March 2010, scientists announced the discovery of a finger bone fragment of a juvenile

Denisovan female who lived about 41,000 years ago, found in the remote Denisova Cave in

the Altai Mountains in Siberia, a cave which has also been inhabited by Neanderthals and

modern humans.

Yes! I have matches!

Autosomal Matches Example

Autosomal Match Results in Ancestry

New 2nd Cousin Found and Friended in Facebook!

Autosomal Match Confirmed Ancestor Assumption

Autosomal Match of African American with White Family Directs Slavery Research

Y Case Studies

■ Paternally related ancestors

■ https://www.familytreedna.com/my/y-dna-migration-map.aspx

■ Check the close matches!

■ Remember that DNA evidence must be paired with genealogy research and documentation

Other Tips and Questions

■ Don’t forget to add your ancestor surnames, oldest maternal and paternal ancestors and your family trees!

■ Get a broader audience and graduate to advanced tools –

– Upload DNA data into additional sites

■ www.gedmatch.com - autosomal DNA

■ www.ysearch.org – Y DNA

■ www.mitosearch.org – mitochrondrial DNA

■ www.dnagedcom.com

■ Join a project or forum through the DNA websites

– Example – Cook/Koch project

■ A short list of Helpful Websites

– www.isogg.org – International Society of Genetic Genealogy

Please join. It is free!

– http://lisalouisecooke.com – Genealogy Gems