Tuesday, January 8, 2008

Discovering Lost and Hidden Relationships: Using DNA in Family History Research by Sacha Masek

10 February 2007

Introduction to Speaker by Gerhard Ruf
Main Presentation: Sacha Masek – Discovering Lost and Hidden Relationships: Using DNA in Family History Research.
Sacha Masek has worked for Sorenson Molecular Genealogy Foundation for several years and is a Project Coordinator. A native of Columbia, Missouri, she began her studies at the University of Missouri (MIZZOU) and ended up at Utah State University where she earned her degree in Family and Human Development. Her responsibilities with the Foundation include collecting DNA samples and pedigree information from volunteer participants, both nationally and internationally, and educating the public about genetic genealogy.

Sacha Masek – Discovering Lost and Hidden Relationships: Using DNA in Family History Research.

If you donated your blood as a DNA sample five years ago you are our pioneers. We have switched from a blood sample to a simple mouthwash rinse. The reason we have done that is that it actually allows us to collect more samples from all over the world.

Our Chief Scientific Officer Scott Woodward beginnings are quit interesting. He actually did his graduate work at the University of Utah. He is part of the group of scientist that found the first gene that was linked to a disease, cystic fibrosis. It was a monumental discovery in about 1985. Genetics is a young science and it’s exciting to be a part of the evolving science of genetics in genealogical research.

Dr. Scott Woodward has a passion in ancient DNA. He went to Peru and Egypt and started working with mummies. Started excavating mummies and looking at their DNA that they had and their relationship that they had with those they were buried with. Then the idea came about to take these pieces of DNA and link them to the individuals that are living in that area and they found relationships. They started see that people that were living at the time they were taking these samples were actually linked genetically to the people they were looking and excavating.

Then the idea came about that if we could do this minimally with the people that are buried to those that are living, what could the living tell us about our past as well as our future. That’s were the idea was taken to our benefactor James Lavoy Sorenson. He took this information and decided to create the Sorenson Molecular Genealogy Foundation. Our desire is to change the way that we think about each other, and hopefully the way act towards each other, by showing that we are really one great human family.

How many of you have had the opportunity to put yourself out in the internet and say I am looking for an ancestor? Does anyone know any information about this person? And you get someone that actually writes you back. How exciting is that! What happens when you start to share the information that you have? You start finding out that the person that contacted you has that same ancestor and that you are family. We start going to family reunions that you never knew about. People are coming together in honor of this ancestor. That is the desire of the project, to change the way people think about each other on a very large scale, to show that we are really one great human family.

How are we doing this?
  • By operating a comprehensive database of the families of the world, using correlated genealogical and genetic information.
  • And proving the tools needed to reconstruct genealogies using DNA.
The Basis of Molecular Genealogy
1. We all carry DNA in our cells.
2. We have inherited DNA from our ancestors. (You are a walking filing system of all your
ancestors DNA.)
3. We can use DNA from living people to reconstruct genetic information about our ancestors. Specific regions of DNA have properties that can:
  • Identify an individual (You are unique, one of a kind)
  • Link them to a family
  • Identify extended family groups (You share DNA in common with descendants of a common ancestor.)
  • Tie the individual to their ancestral populations. (Because your ancestors have come from regions in common with other people you have DNA that will be more similar with those groups of people than with other groups of people.)
4. We can in turn use this information to link ourselves to our ancestors.

Steps to create Molecular Genealogy Databases
  • Extensive research is needed to translate the information contained in DNA into an understandable language, so that it can be converted into practical applications (IE searchable databases)
  • First, we use traditional genealogies to calibrate the genetic data. Then, we will use the genetic data to extend traditional genealogies beyond available written information.

Number of possible ancestors
Generations Ancestors Years
1 - 2 - 25
2 - 4 - 50
3 - 8 - 75
4 - 16 - 100
10 - 1024 - 250
15 - 32768 - 375
20 - 1,048,567 - 500
25 - 33,554,432 - 625
30 - 1 billion - 750
35 - 30 billion - 875
40 - 1 trillion - 1000

Problems with the numbers
30 generations = 750 years = 1 billion possible ancestors
World population 750 years ago: 450 million
Total humans ever to live on earth: 70 billion
(i.e. everybody is potentially related to a large proportion of the earth’s population that lived within the last 500-750 years.)

We probably share common ancestors within the past 15 to 20 generations in the past. We are trying to even look at closer relations 8 to 10 generations in the past. How many of you are from Charlemagne? How many of you hook up to those royal lines and go back to Adam and Eve? Your genealogy is not your own. This is such a great project we know that genealogist are very generous. They know they have to share to gain what they need.

As we traverse back in time through a genealogy, we would expect the number of ancestors to increase exponentially. However, genealogies actually coalesce.

Why would families marry relatives – they were trying to keep the money within the family. Cousins were marrying cousins. Those were the associations they had back then as well. So well within your own genealogies they coalesce or collapse. So what we know is that the potential ancestors vs. the actually number of ancestors, is our number of ancestors are much less. There are not that many ancestors in the past.

DNA – A Historical Record
DNA is a record of the past because it contains information that is transmitted from parents to children at each successive generation. This is preserved even if the names…
…are changed
…are missing

Patronymic Surname Problem
Sample A born in Brazil in 1982, he had at least four generations. On his fourth generation level, his great-great grandfather he only had Gumercindo Correa b. abt 1894. We had another Sample that we connected in Uruguay. This man was born in Uruguay in 1947. His father was Cumercindo Correa Serpa b. 1898 and his grandfather was Antonio Corress b. 1858. They tag on the mother’s maiden name to the fathers to make the family name. Can you see that Sample A’s great-great grandfather and Sample B’s father could be the same people. Would you as a genealogist connect them? NO, good answer. You would want to do more research. In this genetic research these two male Y Chromosomes showed they were an exact match.

The Big FOUR of Molecular Genealogy
Currently Available
  • Y Chromosome – passed down from father to son.
  • Mitochondial DNA – inherit from mother to children, only females pass it along.
Under Construction
  • Autosomol DNA – inherited from all of one’s ancestors. 50% from your mom, 50% from your dad. It recombines in each generation – this is the one we are doing a lot more construction work on.
  • X Chromosome – past down from both parents, its passed uniquely, it’s a little bit different.
Y-Chromosome and Mitochondrial DNA
On the pedigree chart the top portion is the Y Chromosomes (only Males) and the mtDNA is the bottom (under the females) The Autosomol is a combination of all you end line ancestors.

Y-Chromosome connections
Sample A – Sample contributed in the USA. Line goes as far back as L Martin b. 1870.
Sample B – Sample contributed in France. His line goes farther back his grandfather was born in Belgium in 1874 – Louis Martine
Both Samples Y-chromosome haplotype: 12-15-9-11-22-14-10-15-6-8 – they are exactly alike. So as we go back in their genealogies we can give a lot more information on their lines. Using genetic information to assist in your research you are going to probably find that you have common individuals with others further back.

Mitochondrial DNA Inheritance Pattern
mtDNA is passed almost unchanged from the mother to her children. However, only daughters will pass it along to their children.

The Mountain Meadows Massacre: A Synopsis
  • September 7-12, 1857 Baker-Fancher Wagon Train from Arkansas and Missouri to California
  • Ca. 120 people killed in Southern Utah
  • At least 18 children were spared and given to local LDA families
  • Only 17 were later delivered to the government officers to be returned to relatives in the Midwest.
  • Rumors of a little girl secretly kept by Philip Klingensmith’s family, who grew to maturity and married a man named John Urie. The family claimed this was their own child.
  • This woman was identified as Priscilla Klingensmith, born March 20, 1855.
Using mitochondrial DNA – we took samples from three individuals: 1. Priscilla’s great-great granddaughter. 2. Priscilla’s mother, Betsy Cattle, had three more daughters. They took a sample from a great-great-great granddaughter. 3. Betsy had a sister in England named Mary, a great-great-great granddaughter of Mary gave a sample. We looked at these three samples and started comparing. What we found was interesting – we found that they were exactly alike. Their mitochondrial DNA was the same. The debate over Priscilla being the daughter of Betsy and Philip Klingensmith was solved. That is one way that mitochondrial DNA can be used.

Family Haplotype Indicate Membership In A Family (4 Markers)
Autosomal DNA – How multiple members of a family can help us look at past ancestors. Showed a man with three wives and their descendants. We looked at their DNA. We found that they shared pieces of Autosomal DNA in common. We combine sequences to build a Haplotype of their Autosomal DNA and see if it is found in the descendants of a common ancestor. They are pieces of a puzzle that we are putting together. What we are finding is that some descendants are having sequences of this Autosomal DNA. We are able to give a unique genetic signature to someone that lived in the past and did not contribute their DNA sample.

The SMGF Database and Commercial Companies
  • Participants donate their DNA and Genealogies for research that contributes to a large genetic genealogy database.
  • Anyone that can provide 4 or more generations of pedigree information can participate in the SMGF database.
  • It is free
  • The SMGF database is open to the public and accessible on our website at www.smgf.org
  • You need to know your own unique genetic signature to query the database
  • Y-Chromosome and MtDNA databases are now available.
Commercial Companies (Relative Genetics, DNA Heritage)
-You pay a fee to receive back results
-Tests available on:
Y-Chromosome (paternal line)
mtDNA ( maternal line)
Extended family testing
Native American, African Ancestry, Ancestral Origins
-You can use Y-Chromosome and MtDNA data that you receive back to search online databases.

For each person that donates to SMGF project you will receive as a thank you online a coupon that is discounted testing at a commercial company of you DNA. You take the coupon to the company. You can get a 26 marker Y-Chromosome test for $95 or an MtDNA test for $95. That coupon can be passed on to anyone in your family.

Four Steps to Using Genetic Genealogy
1. Look over your pedigree to find genealogical lines you would like to know more about.
-What do I know about DNA testing?
-Do I want to do a Y Chromosome or MtDNA test? What will that tell me about these lines?
2. Find a living descendant to be tested.
-Who pays for the test?
-What test are they going to take?
3. Purchase a test with a commercial company and get your results back.
Relative Genetics, Oxford Ancestors, DNA Heritage, FamilyTree DNA, Trace Genetics, etc.
4. Use your results to compare with other results:
a. Compare your results with another study (i.e. surname studies)
b. Compare your results with online DNA databases (i.e. SMGF databases, yhrd, ybase, easy mito-match, easy y-match, etc.)
c. Compare your results with someone you know who also did a test.

How to Search the SMGF Databases
Step 1: Purchase Y-Chromosome or mtDNA test results from a commercial lab. **ALL SMGF participants receive a discount coupon for a 26 marker Y-chromosome Paternal line analysis or a mtDNA Maternal line analysis with Relative Genetics for $95. You must go on the www.smgf.org website and click on the link to fill out a request for the coupon.

On the SMGF website www.smgf.org there are links to the Y-Chromosome database (males) and the MtDNA database (maternal line). If you have your markers you can put them into the database and search it. You can also search by surname. You can view the information that an individual has donated. No living individual’s information is showing it is protected.

We need a lot of people from the same family lines to donate for the Autosomal research. Children above the age of seven with parental consent can donate their DNA.
The Demographics page on the website shows are the countries represented in the database.

If you want contribute to the project you can request a kit on line at their website. It is free to donate. You need at least four generation to contribute.

This presentation is available on DVD #106 for UVPAFUG members to borrow or purchase.

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