Genetic Genealogy – DNA Testing and You

This article is the first in a series that William H. Blue, president of the National Blue Family Association (NBFA), invited me to write some time ago about DNA for genealogy. The series is appearing in issues of The Chalice, the NBFA newsletter.

Genetic Genealogy – DNA Testing and You

For those of you who have tried to understand the topic of DNA for genealogy and become overwhelmed, believe me, I understand. You may be relieved to know that I have tried to make it so that this does not happen from reading this article. I am assuming the reader has no knowledge about DNA or DNA testing except what is covered here. Thus, I hope to begin as top level as possible. There is a glossary, and each introduced term will be in copperplate font and will be defined there.

This series will neither focus on forensic DNA nor the DNA of all living things. Its only focus will be on genetic genealogy: using genealogy DNA results as evidence for genealogical research. This article, Part 1, is in a question and answer format.

What is genetic genealogy?

Most of us have heard about it. Some of us have thought about it. A few of us have done it. It is DNA testing for genealogy, and it is now in the mainstream of genealogical research.1 In addition to original and secondary records in courthouses, in libraries, and online, we now have DNA testing that can provide irrefutable scientific evidence of ancestors, descendants, and other relationships. The foundation of our family history research not only includes the traditional activities of gathering oral history and family photos, letters, bibles, etc., but now, it is, if not expected, strongly suggested that we “gather our family DNA by testing our family members as broadly and as deeply as our pocketbooks will bear.”2

The field known as genetic genealogy is “the use of DNA testing in combination with traditional genealogical and historical records.”3 Notice that it is a combination of traditional and DNA data. The best practice of genealogy research now includes DNA testing.4 If you blinked, you missed how quickly this happened.

The fields known as genealogy and genetic genealogy are not separate. Neither exists in a vacuum. DNA testing has now become a part of the list of sources included in genealogical evidence as it is described in the Board for Certification of Genealogists’ (BCG) book Genealogy Standards, and while the BCG has yet to say that DNA should be used, it includes it without question.5

The definition of reasonably exhaustive research from the BCG’s Genealogical Proof Standard is as follows:

Reasonably exhaustive research

  • Assumes examination of a wide range of high quality sources
  • Minimizes the probability that undiscovered evidence will overturn a too-hasty conclusion6

We would not think of ignoring marriage, death, or probate records when we research our ancestors. If we did that, obviously we would not be performing reasonably exhaustive research. We would miss out on a wealth of information that could answer the questions we have. Not examining DNA evidence does the same. DNA evidence is now included in the “wide range of high quality sources” that we are expected to examine.

What is DNA testing for genealogy?

In order for genealogists to include genetic genealogy as a part of their research, records from DNA testers must exist. DNA testing for genealogy creates those records. The process of DNA testing consists of the following chronological events, some of which will require the internet.

  1. Select the type of DNA test(s) to purchase.
  2. Choose the DNA testing company.
  3. Order the test kit.
  4. Receive an email that your test kit was shipped.
  5. Receive the test kit in the mail.
  6. Register your test kit online.
  7. Study the testing instructions.
  8. Read and sign any forms that are required.
  9. Gather your saliva sample per instructions.
  10. Send the test kit back to the testing company per instructions.
  11. Receive an email that your test kit has arrived at the testing company.
  12. Receive an email that your DNA sample is processing.
  13. Receive an email that the processing of your sample is complete and your results are in.

What are the names of the different testing companies?

Family Tree DNA, AncestryDNA, MyHeritage, and 23andMe are the only legitimate genealogy DNA testing companies in the United States.

Family Tree DNA and MyHeritage are available worldwide, 23andMe in 56 countries, and AncestryDNA in 34 countries.7

Do not confuse AncestryDNA (which is a part of the Ancestry company) with AncestrybyDNA. AncestrybyDNA is not the type of DNA testing company we will be discussing in these articles. It provides only minimal information that is not useful for our genetic genealogy purposes.8

What are chromosomes?

Chromosomes : Humans have 23 pairs of chromosomes, and those chromosomes make up the DNA of each person. Of those 46 chromosomes, one half come from the father and one half from the mother. The 23rd chromosome pair contains what are called the sex chromosomes. In nearly all cases, men have one Y chromosome and one X chromosome, and women have two X chromosomes.

What are the different kinds of DNA for genealogy?

This article is intentionally not going into depth about the kinds of DNA and what each one shows. There is a teeny-tiny bit of terminology that will be used in this article. I have tried to write this article so that you can skip over this section and still be able to understand, at a high level, what is being covered. Bare bones explanations of Y-DNA, mtDNA, and autosomal DNA are given here and are repeated in the Glossary. These definitions and the workings of each kind of DNA will be repeated and expanded upon in future parts of this series. There is also a 4th type of DNA for genealogy that I will not mention at this time.

Y-DNA : Specific to the Y chromosome, which is one of the chromosomes on the 23rd (or sex) chromosome pair, Y-DNA can only be passed from a father to his sons.

MtDNA : Officially known as mitochondrial DNA, mtDNA is specific to the mitochondria (tiny little engines) inside each cell of a person. Cells are the basic building blocks of all living things. MtDNA is passed only from a mother to her children. Men have the same mtDNA as did their mothers, but men cannot pass it to their children.

Autosomal DNA : Autosomal DNA is the DNA on chromosome pairs 1 through 22. It contains traits that you have inherited from your ancestors.

How can genetic genealogy help me find my ancestors?

DNA testing is not a magic bullet that will solve every genealogical problem that we have. If we test our DNA so that the results are in a DNA database, the genealogical community as a whole benefits. But we cannot expect DNA to eliminate our need to be historical researchers.

Here are three hypothetical scenarios that use DNA which are based on real life situations. They show how DNA is used as well as how it must be combined with traditional genealogical research.

Scenario 1: Stephen Johnson and Alex Johnson recently met. Stephen’s 11th great grandfather on his direct paternal line is supposedly a James Johnston who came to America in the early 17th century and was born in about 1602 in Scotland, or so family legend tells. Alex Johnson’s 2nd great grandfather on his direct paternal line was a man by the name of Joseph Johnson who was born in Virginia in 1815. They both want to know if they descend from the same line of Johnsons. Because they are both male, and because they are interested in their patrilineal ancestors, they can each take a Y-DNA test to find the answer to this question. The results show that each man’s Y-DNA is in the same type. They are descended from the same Johnson ancestor. They do not know who that ancestor is, but they now do know that these are not separate Johnson lines. They find other men in the Y-DNA database who match them and are knowledgeable of the family when it was in Scotland. One of the men still lives in the area. Stephen and Alex take a once in a lifetime trip to Scotland to learn about their roots and meet cousins who at one time they could only dream of finding.

Scenario 2: Two women and one man studying different matrilineal ancestors have hit brick walls in Rowan and Yadkin Counties, North Carolina, in the late 18th century. Their three brick wall ancestresses, all with distinctly different given names and unknown maiden names, seemed to run in the same circles. Their husbands, while showing no genealogical relationship, appeared on court and deed records together, and the families resided near each other. Less common given names were repeated among the families’ children. The families also attended the same church. Known records, even from the church, have been exhausted in an attempt to determine the maiden names of the three ancestresses. The researchers suspect that these women were sisters or maternal cousins. Each takes a mitochondrial DNA (mtDNA) test. Results confirm that each descends from the same woman. There is a possibility that they may never find a paper trail that will lead them to their single common ancestress. It is also possible that the common ancestress is further back in time than traditional research can find. But DNA has proven that they are commonly descended, and that is important information to have in their arsenal as they attempt to break down their respective brick walls.

Scenario 3: A genealogist is studying several Kentucky McCormack (Cormack, MacCormack) families from the 18th and 19th centuries. He is trying to put together five families who lived in nearby counties at roughly the same time. The earliest known person of this surname from each family is as follows:

a. Sarah Cormack, b. 1810, d. 1875, m. Elisha Gooding
b. Absalom Cormack, b. 1767, d. 1848
c. Joshua McCormack, b. 1775, d. 1865, m. Nancy Strange
d. John Cormack, b. 1805, d. unknown
e. Elizabeth MacCormack, b. 1840, d. unknown, m. David Lewis

There are probably several hundred living descendants from each family line. Our genealogist is in contact with 50 of these descendants, some from each ancestor. About half of them have agreed to take an autosomal DNA test. The DNA tests show that nearly all 25 match at various levels of cousinship.9 Without going further, our genealogist can say that these five McCormack families were related. He cannot say in what way.

The DNA results include a list of people who match each person. Two matches show up for two of the testing descendants of Joshua Cormack and all of the testing descendants of Sarah (Cormack) Gooding. These two matches are first cousins and have no Cormack/McCormack ancestry, but do have a Strange/Strong ancestral line. Although it is not yet safe to say that Sarah (Cormack) Gooding was the daughter of Joshua McCormack and Nancy (Strange) McCormack, we now know that any of the following could be true:

a. Sarah Cormack could have been the daughter or granddaughter of Joshua McCormack and Nancy (Strange) McCormack;
b. Elisha Gooding and Nancy Strange could have been related by blood;
c. Sarah Cormack’s mother could have been a blood relative of Nancy Strange; or,
d. Sarah Cormack’s father could have been related by blood to Nancy Strange.

Right away, the genealogist knows to look for a relationship between Sarah Cormack and Joshua McCormack, and he knows that the surname Strange is involved. Although the descendants of Sarah and Joshua do not (yet) have autosomal DNA matches with known McCormack ancestry, he cannot toss out a possible McCormack relationship simply because McCormack matches are not found.10 When researching using traditional genealogical methods, the absence of a record does not mean that an event did not occur. With DNA matches, the absence of a cousin match does not mean that no relationship exists.

Additionally, from the testing of these five family lines, the genealogist discovers that the descendants of Elizabeth (MacCormack) Lewis and John Cormack match as closer cousins than the others. This leads him to strongly suspect that Elizabeth and John were closer in relationship than they were to the other three McCormacks.11

Our genealogist will be seeking more descendants of the five families and asking them to test their autosomal DNA because he knows that having more evidence is better and that not everybody inherits the same autosomal DNA from his or her ancestors.12 In addition to more McCormacks, he will be looking for living people with the surnames of Strange, Gooding, and Lewis, or individuals whose recent ancestors had those surnames, and who were from the same location in Kentucky. He will be asking these living descendants to take an autosomal DNA test. He will also be asking the McCormack surnamed men to upgrade to include Y-DNA testing. His goal is to determine if the McCormack men come from the same patrilineal ancestor and to determine what parts of their autosomal DNA represent inheritance from each relevant ancestor. If he is able to do that, he may be able to prove how each of the five families is related to the others. It is also very likely that he will be led to historical records that he would not have known to seek before obtaining the DNA evidence.

Why should I get DNA tested?

It may soon be just as surprising in the genealogy world to ask this question as it would be to ask, “Why should I record my child’s birth?” Or, “Why do I need a marriage license?” We certainly hope that these days, people aren’t throwing out old family bibles! If we die, and eventually we all will, without getting our DNA tested – without leaving that precious record for our descendants and other genealogical researchers of our families – there is no going back. We have just thrown out the family bible and burned all of those old photos. Perhaps our grandmother’s corpse could be exhumed in order to expensively obtain her DNA sample, but let’s not make our future relatives have to go through this in order to get a record of ours.

DNA is a genealogical record. As I’ve already covered, it is a source for us to use in our research. We can’t use a source that does not exist. In 2007, I asked my uncle if he would take a DNA test. He refused because he said he didn’t want the government to be able to get his DNA and use it. I never got up the courage to ask him again. Seven years later, at age 91, he was gone. The government no more wanted his DNA than they did his old clothes.13 His DNA results would be almost as good as my mother’s, who died in 2005. In 2005, I did not know about DNA for genealogy.

There may be some genealogical problems that only your individual DNA results can solve. For example, if you are the only known living male descendant of your direct line paternal 4th great grandfather, and all of your children are daughters, your Y-DNA is the only Y-DNA available to use in a situation like Scenario 1, above. Once you are deceased, your patrilineage will end, so leaving this evidence for your descendants is extremely valuable.

On the other hand, your autosomal DNA may be just about as common as your three cousins’ who have already taken a DNA test, and you may have no children, so you don’t know why it matters if you take one yourself. Just because your autosomal DNA is similar to a few of your cousins’, however, does not mean it isn’t valuable or unique. If we compare death certificates for four Mary Smiths, the Mary Smiths are unique even if their fathers are all named John and their mothers are all named Nancy. They are still four distinct women with distinct ancestries and descendants. Their birth certificates, though similar, are unique genealogical records. The results of each sample of close cousin DNA, though similar, are not the same.

The only people who will have exactly the same DNA are identical twins (triplets, etc.). So if your identical triplet tests, then and only then are you off the hook. My full brother and I do not have exactly the same list of autosomal DNA matches. Of course, we would not. We are not the same people. We do not have exactly the same autosomal DNA. Because we both tested, we have more matches to work with.

DNA testing is a definitive way to uncover (intentionally or accidentally) situations where blood relationships are not what they have been said to be. These are called non-paternal events, or NPEs. If you are opposed to knowing of the existence of these events that may have occurred in your family, then DNA testing may not be for you. If you would like to know, or are not opposed to knowing, about these types of events, but have relatives who this information may shock or harm, then you may not need to avoid testing, but need to think strongly about whether or not to unveil this knowledge to those relatives. I have been asked by more than one match to keep this kind of information confidential.

The point I’m trying to make as I close out this section is this: TEST. Do every test you can afford. Test everybody. Even if you don’t understand DNA, and even if you could not care less, test. If you can afford it and they can’t, pay for it for relatives. Give test kits as gifts. Challenge family groups at reunions to test. Collect test samples before it is time to eat – tell them they don’t get food until they give up a saliva sample into a test kit.

Do I have to understand how DNA works or how to use it before I test?

No, not at all. Think about it this way. You do not have to understand how to do genealogical research in order to record your children’s’ births. You do not even have to understand or care that perhaps 100 years in the future, their descendants will be seeking those birth records. Nor do you have to know whether or not a future genealogist will find you as a match to a family she is studying, nor know how she will use that information in her search for ancestors.

Is it safe, private, and secure?

All privacy and permission is controlled by you. Access to your DNA information is owned and controlled by you. Only you own your DNA sample and your DNA results, even if somebody else paid for the test. Your DNA sample and DNA results are not owned by the testing company. They are owned by you. In order to show up in others’ match lists, you have to give permission. You can request that your results be deleted from the testing company’s database and that your DNA sample be destroyed at any time.

How much do DNA tests cost in the U.S.?

The DNA test prices shown here are accurate as of the date of this post.

Autosomal DNA tests for genealogy range in price from $79-$99.

Y-DNA tests vary in price, depending upon the level14 of testing purchased. Y-DNA tests can be upgraded from a lower level to a higher level. A new DNA sample is required only if the previous one has been exhausted of its DNA. They can be purchased only from Family Tree DNA, and prices range from $169 – $359.

MtDNA tests vary in price, depending upon the level15 of testing purchased. MtDNA tests can be upgraded from a lower level to a higher level. A new DNA sample is required only if the previous one has been exhausted of its DNA. They can be purchased only from Family Tree DNA, and prices range from $69 – $199.

The testing companies offer periodic sales, often at holiday times, Father’s Day, Mother’s Day, and the like. Free shipping coupons can also be found.

Will DNA for genealogy tell me what diseases I may get, the best medications for me, etc.?

No. DNA for genealogy itself does not provide this information.

Does my DNA go into some big database for the police to use?

No. Law enforcement is not interested in building a big database from all available samples of DNA for genealogy. Law enforcement has its own database called CODIS.16 Furthermore, as stated by Judy G. Russell, JD, CG℠, CGL℠, on her blog The Legal Genealogist:

We, in genetic genealogy DNA tests, look for markers that make us like other people. The police, in forensic DNA tests, look for markers that make us unique — that set us apart from everyone else.17

Again from Judy G. Russell on The Legal Genealogist:

If the police have probable cause to believe that a crime has been committed and that you committed it, they can walk into any judge’s office in this country and get a search warrant that will let them pick you up, trot you down to the nearest medical facility, and take whatever blood or saliva they want for a DNA sample and they’ll use their own lab, not that from a genetic genealogy company, to do the tests they want.18

If you are truly concerned about this, nothing I can do or say will convince you to test. But I hope that only a few, if any, have this fear.

But I’ve read a little about DNA, and I just can’t get past the terminology.

DNA is a wide field. Geneticists know more about it than any of us. For genetic genealogy, we are interested only in what I would call a subset of that wealth of knowledge. This article includes a glossary to explain terms that have been introduced. These will be expanded on as the series progresses. You do not have to understand all of the terminology nor how to use the DNA results in order to take a DNA test.

More to Come!

At one time, believe it or not, I thought that DNA testing for genealogy was a gimmick, a waste of money, and that I would get nowhere with it. Nothing could be further from the truth. As a part of this series, I plan to share with you at least one example of how I have used genetic genealogy in my own research.

Genealogy is a field that I am passionate about. Adding genetic genealogy to my toolbox in 2013 has led me to breakthroughs that I thought were hopelessly out of reach. In future installments, I will also elaborate on the example scenarios presented in this article, provide detail on how DNA matching works, explain third-party tools, and more.


Glossary

Autosomal DNA Autosomal DNA is the DNA on chromosome pairs 1 through 22. It contains many things that you have inherited from your ancestors, including, but not limited to, traits.
Autosomal DNA match For now, see autosomal DNA and DNA match.
Autosomal DNA results The end products that are provided to the consumer from autosomal DNA testing, including a list of matches from an autosomal DNA database and a downloadable raw data file. The raw data file will be covered in a future installment of this series.
Autosomal DNA test A DNA test for genealogy that looks specifically at the autosomal DNA of a person.
Chromosomes Components that make up the DNA of each person. There are 23 pairs of chromosomes, for a total of 46. Of those 46 chromosomes, one half are from the father and one half from the mother. The 23rd chromosome pair contains what are called the sex chromosomes. In nearly all cases, men have one Y chromosome and one X chromosome, and women have two X chromosomes.
DNA analysis tools Online tools by testing companies and third-party providers that allow for the analysis of DNA matches and DNA results. Testing companies vary on what types of tools they offer. Third-party providers sometimes have in-depth tools, as their focus is on the tools and not the testing. Third-party providers will be covered later in this series of articles.
DNA database An online public or private database that contains one record with non-identifying information for each person who has tested and who has given consent to have his or her results included. Each type of DNA database (Y-DNA, mtDNA, or autosomal DNA) only contains records for that type of DNA test, and each serves the purpose of allowing testers to find people who match them.
DNA evidence What is presented to support a genealogical conclusion after the study and analysis of DNA results.
DNA match A person who shows up in a list of people whose DNA has been compared with the tester’s DNA and found to be the same at certain locations. The logic for matching depends on the type of DNA being compared (Y-DNA, mtDNA, or autosomal DNA) and the testing company performing the comparisons.
DNA results The end products that are provided to the consumer from DNA testing, including a list of matches from a DNA database.
DNA sample Saliva obtained either from scraping inside each cheek with soft swabs provided by a testing company or by spitting into a vial, also provided by a testing company. Whether the sample is obtained by swabbing or spitting depends on the testing company itself. A DNA sample usually contains enough of the tester’s DNA for multiple DNA tests to be performed. Any remaining DNA from a DNA sample is stored for a number of years by the testing company unless either the tester requests otherwise or the testing company purges it.
DNA test Noun: a test performed by a genealogical DNA testing company using a DNA sample provided by a consumer. Test results are then returned to the consumer for his or her own use.

Verb: the act of obtaining a DNA test.

DNA test kit Typically contains 1) a sealed package that includes one or two swabs and a vial, or a vial with an attached funnel; 2) a unique identification number; 3) instructions; 4) a release form to be read and signed; and, 5) a return puffy envelope or a return box (pre-addressed, and with or without postage paid).
DNA testing company A for-profit company that will process a DNA sample, return DNA results, and provide various DNA analysis tools.
Match See DNA match.
Matrilineal ancestors Your ancestors who are only on your direct maternal line, meaning your mother, her mother, her grandmother, her great-grandmother, and so on. If you are a female and a parent, you are your children’s matrilineal ancestor. You have many female ancestral lines, but only this one directly from your mother is considered matrilineal.
Mitochondrial DNA See mtDNA.
mtDNA Officially known as mitochondrial DNA, mtDNA is specific to the mitochondria (tiny little engines) inside each cell of a person. Cells are the basic building blocks of all living things. MtDNA is passed only from a mother to her children. Men have the same mtDNA as did their mothers, but men cannot pass it to their children.
mtDNA match For now, see mtDNA and DNA match.
mtDNA results The end products that are provided to the consumer from mtDNA testing, including a list of matches from an mtDNA database.
mtDNA test A DNA test performed on a DNA sample specifically for mtDNA. An mtDNA test can be done on a DNA sample from a man or a woman.
Patrilineage See patrilineal ancestors.
Patrilineal ancestors Your ancestors who are only on your direct paternal line, meaning your father, his father, his grandfather, his great-grandfather, and so on. If you are male and a father, you are your children’s patrilineal ancestor. You have many male ancestral lines, but only the one directly from your father is considered patrilineal.
Processing Processing is when a testing company takes a DNA sample and extracts the DNA from it. The DNA that is extracted is specific to the type of test being performed.
Results See DNA results.
Saliva sample See DNA sample.
Sample See DNA sample.
Test See DNA test.
Test kit See DNA test kit.
Test sample See DNA sample.
Testing company See DNA testing company.
Type A term that has no technical meaning in genetic genealogy. Y-DNA and mtDNA are separated into very detailed genetic groups and subgroups that allow for very specific matching because it remains virtually unchanged as it passes from generation to generation. The term will be replaced with the correct terms as the series progresses.
Y-DNA Specific to the Y chromosome, which is one of the chromosomes on the 23rd (or sex) chromosome pair, Y-DNA can only be passed from a father to his sons.
Y-DNA database An online public or private database that contains one record with non-identifying information for each person who has Y-DNA tested and who has given consent to have his results included. A Y-DNA database serves the purpose of allowing Y-DNA testers to find people who Y-DNA match them, thereby allowing them to locate those who descend from a single patrilineal ancestor.
Y-DNA match For now, see Y-DNA and DNA match.
Y-DNA results The end products that are provided to the consumer from Y-DNA testing, including a list of matches from a Y-DNA database.
Y-DNA test A DNA test performed on a DNA sample specifically for Y-DNA. A Y-DNA test can be done on a DNA sample from a man only.

Citations

1. Judy G. Russell, “Figuring it all out,” The Legal Genealogist (http://www.legalgenealogist.com/2014/05/25/figuring-it-all-out/ : posted 25 May 2014; accessed 14 July 2016).

2. Judy G. Russell, “DNA: coming on strong,” The Legal Genealogist (http://www.legalgenealogist.com/2015/09/20/dna-coming-on-strong/ : posted 20 September 2015; accessed 14 July 2016).

3. International Society of Genetic Genealogy Wiki (http://www.isogg.org/wiki/), “Genetic Genealogy,” rev. 17:47, 21 January 2016.

4. Melinde Lutz Byrne and Thomas W. Jones, “Editor’s Corner,” National Genealogical Society Quarterly (NGSQ), Vol. 102, No. 3 (Sep. 2014).

5. Byrne and Jones, “Editor’s Corner,” NGSQ, Vol. 102, No. 3.

6. Board for Certification of Genealogists, “The Genealogical Proof Standard,” Board for Certification of Genealogists (http://www.bcgcertification.org/resources/standard.html : accessed 13 July 2016).

7. International Society of Genetic Genealogy Wiki (http://www.isogg.org/wiki/), “Autosomal DNA testing comparison chart,” rev. 11:53, 22 June 2016.

8. Judy G. Russell, “That ‘by’ word,” The Legal Genealogist (http://www.legalgenealogist.com/2015/12/20/that-by-word/ : posted 20 December 2015; accessed 22 November 2016).

9. It is typical for not all testers to match all expected cousins. Distant relatives sometimes don’t have enough DNA in common to be considered a match.

10. Autosomal DNA can prove but not disprove a relationship in all but close relationships.

11. The genealogist strongly suspects, but can’t know for sure, because not everybody inherits the exact same DNA. Even siblings have DNA inheritance differences.

12. More about this in the future.

13. I sure do, though.

14. The levels of Y-DNA tests will be described in a future issue.

15. The levels of mtDNA tests will be described in a future issue.

16. National Institute of Justice, “What is CODIS?” NIJ Journal [online] (http://nij.gov/journals/266/Pages/backlogs-codis.aspx : posted 16 July 2010; accessed 14 July 2016).

17. Judy G. Russell, “Facts Matter!” The Legal Genealogist (http://www.legalgenealogist.com/2015/05/03/facts-matter/ : posted 3 May 2015; accessed 14 July 2016).

18. Judy G. Russell, “Facts Matter!”

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