DNA Testing In Family History Research By Byron Held & Assisted by Loren Toomsen March 3, 2007 Mason City Library

1. DNA Testing In Family History Research By Byron Held & Assisted by Loren Toomsen March 3, 2007 Mason City Library

2. Acknowledgements Loren Toomsen for technical help Bob Vint From The Arizona State Genecology Society Presented December 10, 2005 Titled “DNA SIG, 10 DEC 2005” DNA - Wikipedia, the free encyclopedia http://en.wikipedia.org/wiki/Dna This talk will be in two parts. • Part one is on DNA • Part two is on web sites for DNA testing.

3. Qualifications • BS in Chemistry • Worked at Salsbury Laboratories/Solvay & Sie and Cambrex in Charles City • 38 years a research chemist, process development chemist and plant troubleshooter.

4. DNA – What is it? • DNA stands for Deoxyribonucleic Acids • DNA is made up of basically 3 components. • A heterocyclic base • A simple sugar (not sucrose which is two simple sugars attached to each other), either D-ribose or 2-deoxy-D-ribose. • A phosphate ester. • DNA is the genetic material in each and every cell in the human body. It is also present in bacteria and other animals. • DNA is a very large molecule. It is different for each species. • DNA in cells is present as a double helix. It took many years to determine this. • DNA can replicate its self by carefully unwinding the double helix. Duplicating itself thus permitting a cell to divide into two identical cells. • Denatured DNA has the double helix destroyed, that is, unraveled and unable to recombine. This happens in cooking.

5. DNA – What is it? • DNA stands for Deoxyribonucleic Acids • DNA is made up of basically 3 components. • A heterocyclic base • A simple sugar (not sucrose which is two simple sugars attached to each other), either D-ribose or 2-deoxy-D-ribose. • A phosphate ester. • DNA is the genetic material in each and every cell in the human body. It is also present in bacteria and other animals. • DNA is a very large molecule. It is different for each species. • DNA in cells is present as a double helix. It took many years to determine this. • DNA can replicate its self by carefully unwinding the double helix. Duplicating itself thus permitting a cell to divide into two identical cells. • Denatured DNA has the double helix destroyed, that is, unraveled and unable to recombine. This happens in cooking.

6. DNA – What is it? • DNA stands for Deoxyribonucleic Acids • DNA is made up of basically 3 components. • A heterocyclic base • A simple sugar (not sucrose which is two simple sugars attached to each other), either D-ribose or 2-deoxy-D-ribose. • A phosphate ester. • DNA is the genetic material in each and every cell in the human body. It is also present in bacteria and other animals. • DNA is a very large molecule. It is different for each species. • DNA in cells is present as a double helix. It took many years to determine this. • DNA can replicate its self by carefully unwinding the double helix. Duplicating itself thus permitting a cell to divide into two identical cells. • Denatured DNA has the double helix destroyed, that is, unraveled and unable to recombine. This happens in cooking.

7. DNA – What is it? • DNA stands for Deoxyribonucleic Acids • DNA is made up of basically 3 components. • A heterocyclic base • A simple sugar (not sucrose which is two simple sugars attached to each other), either D-ribose or 2-deoxy-D-ribose. • A phosphate ester. • DNA is the genetic material in each and every cell in the human body. It is also present in bacteria and other animals. • DNA is a very large molecule. It is different for each species. • DNA in cells is present as a double helix. It took many years to determine this. • DNA can replicate its self by carefully unwinding the double helix. Duplicating itself thus permitting a cell to divide into two identical cells. • Denatured DNA has the double helix destroyed, that is, unraveled and unable to recombine. This happens in cooking.

8. DNA – What is it? • DNA stands for Deoxyribonucleic Acids • DNA is made up of basically 3 components. • A heterocyclic base • A simple sugar (not sucrose which is two simple sugars attached to each other), either D-ribose or 2-deoxy-D-ribose. • A phosphate ester. • DNA is the genetic material in each and every cell in the human body. It is also present in bacteria and other animals. • DNA is a very large molecule. It is different for each species. • DNA in cells is present as a double helix. It took many years to determine this. • DNA can replicate its self by carefully unwinding the double helix. Duplicating itself thus permitting a cell to divide into two identical cells. • Denatured DNA has the double helix destroyed, that is, unraveled and unable to recombine. This happens in cooking.

9. DNA – What is it? • DNA stands for Deoxyribonucleic Acids • DNA is made up of basically 3 components. • A heterocyclic base • A simple sugar (not sucrose which is two simple sugars attached to each other), either D-ribose or 2-deoxy-D-ribose. • A phosphate ester. • DNA is the genetic material in each and every cell in the human body. It is also present in bacteria and other animals. • DNA is a very large molecule. It is different for each species. • DNA in cells is present as a double helix. It took many years to determine this. • DNA can replicate its self by carefully unwinding the double helix. Duplicating itself thus permitting a cell to divide into two identical cells. • Denatured DNA has the double helix destroyed, that is, unraveled and unable to recombine. This happens in cooking.

10. DNA – What is it? • DNA stands for Deoxyribonucleic Acids • DNA is made up of basically 3 components. • A heterocyclic base • A simple sugar (not sucrose which is two simple sugars attached to each other), either D-ribose or 2-deoxy-D-ribose. • A phosphate ester. • DNA is the genetic material in each and every cell in the human body. It is also present in bacteria and other animals. • DNA is a very large molecule. It is different for each species. • DNA in cells is present as a double helix. It took many years to determine this. • DNA can replicate its self by carefully unwinding the double helix. Duplicating itself thus permitting a cell to divide into two identical cells. • Denatured DNA has the double helix destroyed, that is, unraveled and unable to recombine. This happens in cooking.

11. DNA – What is it? • DNA stands for Deoxyribonucleic Acids • DNA is made up of basically 3 components. • A heterocyclic base • A simple sugar (not sucrose which is two simple sugars attached to each other), either D-ribose or 2-deoxy-D-ribose. • A phosphate ester. • DNA is the genetic material in each and every cell in the human body. It is also present in bacteria and other animals. • DNA is a very large molecule. It is different for each species. • DNA in cells is present as a double helix. It took many years to determine this. • DNA can replicate its self by carefully unwinding the double helix. Duplicating itself thus permitting a cell to divide into two identical cells. • Denatured DNA has the double helix destroyed, that is, unraveled and unable to recombine. This happens in cooking.

12. DNA – What is it? • DNA stands for Deoxyribonucleic Acids • DNA is made up of basically 3 components. • A heterocyclic base • A simple sugar (not sucrose which is two simple sugars attached to each other), either D-ribose or 2-deoxy-D-ribose. • A phosphate ester. • DNA is the genetic material in each and every cell in the human body. It is also present in bacteria and other animals. • DNA is a very large molecule. It is different for each species. • DNA in cells is present as a double helix. It took many years to determine this. • DNA can replicate its self by carefully unwinding the double helix. Duplicating itself thus permitting a cell to divide into two identical cells. • Denatured DNA has the double helix destroyed, that is, unraveled and unable to recombine. This happens in cooking.

13. DNA – What is it? • DNA stands for Deoxyribonucleic Acids • DNA is made up of basically 3 components. • A heterocyclic base • A simple sugar (not sucrose which is two simple sugars attached to each other), either D-ribose or 2-deoxy-D-ribose. • A phosphate ester. • DNA is the genetic material in each and every cell in the human body. It is also present in bacteria and other animals. • DNA is a very large molecule. It is different for each species. • DNA in cells is present as a double helix. It took many years to determine this. • DNA can replicate its self by carefully unwinding the double helix. Duplicating itself thus permitting a cell to divide into two identical cells. • Denatured DNA has the double helix destroyed, that is, unraveled and unable to recombine. This happens in cooking.

14. A small segment of DNA From Wikipedia, the free encyclopedia A small section of DNA showing the double helix

15. DNA Mutations • DNA is made up of many repeating subunits of base, sugar and phosphate esters. There are 4 bases. • These repeating units are not identical! • A mutation is a major and permanent change in the repeating subunits of DNA. • Results of these mutations is seen in major degenerative diseases. Lupus is one example. • Disease is not the only thing that happens when DNA mutates.

16. DNA Mutations • DNA is made up of many repeating subunits of base, sugar and phosphate esters. There are 4 bases. • These repeating units are not identical! • A mutation is a major and permanent change in the repeating subunits of DNA. • Results of these mutations is seen in major degenerative diseases. Lupus is one example. • Disease is not the only thing that happens when DNA mutates.

17. DNA Mutations • DNA is made up of many repeating subunits of base, sugar and phosphate esters. There are 4 bases. • These repeating units are not identical! • A mutation is a major and permanent change in the repeating subunits of DNA. • Results of these mutations is seen in major degenerative diseases. Lupus is one example. • Disease is not the only thing that happens when DNA mutates.

18. DNA Mutations • DNA is made up of many repeating subunits of base, sugar and phosphate esters. There are 4 bases. • These repeating units are not identical! • A mutation is a major and permanent change in the repeating subunits of DNA. • Results of these mutations is seen in major degenerative diseases. Lupus is one example. • Disease is not the only thing that happens when DNA mutates.

19. DNA Mutations • DNA is made up of many repeating subunits of base, sugar and phosphate esters. There are 4 bases. • These repeating units are not identical! • A mutation is a major and permanent change in the repeating subunits of DNA. • Results of these mutations is seen in major degenerative diseases. Lupus is one example. • Disease is not the only thing that happens when DNA mutates.

20. DNA Mutations • Over millennia there have been changes in the DNA and these changes have been specific to certain areas of the earth. Eye shape and skin pigmentation are two very visible examples. There are many more mutations that are not visible and show up in the individuals DNA. • Each individuals DNA is made up from their two biological parents. • How can we use these mutations to help in our genealogy research?

21. DNA Mutations • Over millennia there have been changes in the DNA and these changes have been specific to certain areas of the earth. Eye shape and skin pigmentation are two very visible examples. There are many more mutations that are not visible and show up in the individuals DNA. • Each individuals DNA is made up from their two biological parents. • How can we use these mutations to help in our genealogy research?

22. DNA Mutations • Over millennia there have been changes in the DNA and these changes have been specific to certain areas of the earth. Eye shape and skin pigmentation are two very visible examples. There are many more mutations that are not visible and show up in the individuals DNA. • Each individuals DNA is made up from their two biological parents. • How can we use these mutations to help in our genealogy research?

23. DNA Mutations help us understand our lineage? • To answer this question we need to understand a little more about DNA. • There are different areas within the DNA molecule. One area contains chromosomes information and another area is called the fingerprint area. There are other areas. • The fingerprint area is used by forensic experts. • There are specific methods or compounds that will cut the DNA molecule in to smaller pieces at specific spots between specific subunits. These are called fragments. • These fragments can be amplified, that is, increased in number by other processes. • When these fragments have been amplified enough it is then possible to analyze them.

24. DNA Mutations help us understand our lineage? • To answer this question we need to understand a little more about DNA. • There are different areas within the DNA molecule. One area contains chromosomes information and another area is called the fingerprint area. There are other areas. • The fingerprint area is used by forensic experts. • There are specific methods or compounds that will cut the DNA molecule in to smaller pieces at specific spots between specific subunits. These are called fragments. • These fragments can be amplified, that is, increased in number by other processes. • When these fragments have been amplified enough it is then possible to analyze them.

25. DNA Mutations help us understand our lineage? • To answer this question we need to understand a little more about DNA. • There are different areas within the DNA molecule. One area contains chromosomes information and another area is called the fingerprint area. There are other areas. • The fingerprint area is used by forensic experts. • There are specific methods or compounds that will cut the DNA molecule in to smaller pieces at specific spots between specific subunits. These are called fragments. • These fragments can be amplified, that is, increased in number by other processes. • When these fragments have been amplified enough it is then possible to analyze them.

26. DNA Mutations help us understand our lineage? • To answer this question we need to understand a little more about DNA. • There are different areas within the DNA molecule. One area contains chromosomes information and another area is called the fingerprint area. There are other areas. • The fingerprint area is used by forensic experts. • There are specific methods or compounds that will cut the DNA molecule in to smaller pieces at specific spots between specific subunits. These are called fragments. • These fragments can be amplified, that is, increased in number by other processes. • When these fragments have been amplified enough it is then possible to analyze them.

27. DNA Mutations help us understand our lineage? • To answer this question we need to understand a little more about DNA. • There are different areas within the DNA molecule. One area contains chromosomes information and another area is called the fingerprint area. There are other areas. • The fingerprint area is used by forensic experts. • There are specific methods or compounds that will cut the DNA molecule in to smaller pieces at specific spots between specific subunits. These are called fragments. • These fragments can be amplified, that is, increased in number by other processes. • When these fragments have been amplified enough it is then possible to analyze them.

28. DNA Mutations help us understand our lineage? • To answer this question we need to understand a little more about DNA. • There are different areas within the DNA molecule. One area contains chromosomes information and another area is called the fingerprint area. There are other areas. • The fingerprint area is used by forensic experts. • There are specific methods or compounds that will cut the DNA molecule in to smaller pieces at specific spots between specific subunits. These are called fragments. • These fragments can be amplified, that is, increased in number by other processes. • When these fragments have been amplified enough it is then possible to analyze them.

29. DNA Mutations help us understand our lineage? • This is possible through a process called electrophoreses. • A solution of fragments is applied to a small area on a gel plate. A electrical voltage is applied across the plate which causes the fragments to move along the plate. There movement is dependent on the number of subunits in the fragment and other factors. • The fragment pattern can be compared with other individuals for a match or to compare mutations from specific parts of the world. • There are commercial companies in the US of A that do this analysis for a profit. The remaining portion of this presentation will be concerned with these web sites.

30. DNA Mutations help us understand our lineage? • This is possible through a process called electrophoreses. • A solution of fragments is applied to a small area on a gel plate. A electrical voltage is applied across the plate which causes the fragments to move along the plate. There movement is dependent on the number of subunits in the fragment and other factors. • The fragment pattern can be compared with other individuals for a match or to compare mutations from specific parts of the world. • There are commercial companies in the US of A that do this analysis for a profit. The remaining portion of this presentation will be concerned with these web sites.

31. DNA Mutations help us understand our lineage? • This is possible through a process called electrophoreses. • A solution of fragments is applied to a small area on a gel plate. A electrical voltage is applied across the plate which causes the fragments to move along the plate. There movement is dependent on the number of subunits in the fragment and other factors. • The fragment pattern can be compared with other individuals for a match or to compare mutations from specific parts of the world. • There are commercial companies in the US of A that do this analysis for a profit. The remaining portion of this presentation will be concerned with these web sites.

32. DNA Mutations help us understand our lineage? • This is possible through a process called electrophoreses. • A solution of fragments is applied to a small area on a gel plate. A electrical voltage is applied across the plate which causes the fragments to move along the plate. There movement is dependent on the number of subunits in the fragment and other factors. • The fragment pattern can be compared with other individuals for a match or to compare mutations from specific parts of the world. • There are commercial companies in the US of A that do this analysis for a profit. The remaining portion of this presentation will be concerned with these web sites.

33. Part Two - Web Sites & Haplogroups • The web sites were taken from Bob Vint’s paper. • Following the information on web sites will be information on haplogroups. • Haplogroups are beyond my expertise. The haplogroup information is presented to give you an idea of its complexity and how the information may be of use to you and your genealogy research.

34. Part Two - Web Sites & Haplogroups • The web sites were taken from Bob Vint’s paper. • Following the information on web sites will be information on haplogroups. • Haplogroups are beyond my expertise. The haplogroup information is presented to give you an idea of its complexity and how the information may be of use to you and your genealogy research.

35. Part Two - Web Sites & Haplogroups • The web sites were taken from Bob Vint’s paper. • Following the information on web sites will be information on haplogroups. • Haplogroups are beyond my expertise. The haplogroup information is presented to give you an idea of its complexity and how the information may be of use to you and your genealogy research.

36. Websites • www.familytreedna.com • www.ysearch.org • http://smgf.org • www.dnaheritage.com • www.ybase.org • www.relativegenetics.com • www.relativegenetics.com/relativegenerics/index.jsp • http://smgf.org/glossary.html • www.kerchner.com/dna-info.htm • www.worldfamilies.net/helpful_tools.htm • www.cyndislist.com

37. What is GEDCOM? • GEDCOM is a file format that allows genealogists to exchange information about their ancestors. In most of the cases it is compatible with genealogy software, allowing you to open files that were created with different software. The same way, other researchers can open your files when they are saved as GEDCOM files. • You don't purchase a GEDCOM. To create a GEDCOM file of your family information is easy, as long as you have genealogy software (this is the only way to get a GEDCOM file from your own family tree information). In most of the cases, once you have your data opened in that software, depending on the software, you either Export GEDCOM (or a similar command) from a menu, or Save As GEDCOM and then follow the subsequent instructions.

38. What is GEDCOM? • GEDCOM is a file format that allows genealogists to exchange information about their ancestors. In most of the cases it is compatible with genealogy software, allowing you to open files that were created with different software. The same way, other researchers can open your files when they are saved as GEDCOM files. • You don't purchase a GEDCOM. To create a GEDCOM file of your family information is easy, as long as you have genealogy software (this is the only way to get a GEDCOM file from your own family tree information). In most of the cases, once you have your data opened in that software, depending on the software, you either Export GEDCOM (or a similar command) from a menu, or Save As GEDCOM and then follow the subsequent instructions.

39. Source for the following information is: http://en.wikipedia.org/wiki/Haplogroup and the definitions are from: http://www.reference.com/browse/wiki/Haplotype • In human genetics, the haplogroups most commonly studied are Y-chromosome (Y-DNA) haplogroups and mitochondrial DNA (mtDNA) haplogroups, both of which can be used to define genetic populations. Y-DNA has the advantage of being passed solely along the patrilineal line, while mtDNA is passed solely on the matrilineal line • a haplogroup is a large group of haplotypes. • A haplotype is the genetic constitution of an individual chromosome. • Human Y-chromosome DNA haplogroupsMain article: Human Y-chromosome DNA haplogroup • Human Y chromosome DNA (Y-DNA) haplogroups are lettered A through R, and are further subdivided using numbers and lower case letters. Y chromosome haplogroup designations are established by the Y Chromosome Consortium. Y-chromosomal Adam is the name given by researchers to the male who is the most recent common patrilineal (male-lineage) ancestor of all living humans.

40. Human mitochondrial DNA haplogroups Main article: Human mitochondrial DNA haplogroup Human mitochondrial DNA (mtDNA) haplogroups are lettered A, B, C, CZ, D, E, F, G, H, pre-HV, HV, I, J, JT, K, L, L1, L2, L3, M, N, O, P, Q, R, S, T, U, V, W, X, Y, and Z. Mitochondrial Eve is the name given by researchers to the woman who is the most recent common matrilineal (female-lineage) ancestor of all living humans.