Genealogical Ponderings

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  1. Demystifying DNA 4: Autosomal DNA, Ancestry DNA and Family Finder tests

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    In my series of posts about Demystifying DNA testing for use in family history this is probably the type of testing most people want to hear about: autosomal DNA testing. In other words, the tests used by Ancestry, 23 and Me, My Heritage, Family Tree DNA (and soon Living DNA) to find matches with close relatives, matches where the common ancestor is only 2-5 generations ago. Autosomal DNA testing is also known as a Family Finder test at Family Tree DNA and you may also find it described as “close cousin” testing.

    This is the type of testing taken by the highest number of people and the type of testing most likely to generate matches to your own known family names.

    Before we get into where to test and how to use your matches we need to look at the science some more to ensure we will get the most from the data. See the Introduction post for the general background to DNA.

     

    Autosomal DNA: The “Sciencey” Bit

     

    Remember from the first post in this series the image that showed your autosomal DNA? Here is it again:

     

    Human karyotype

     

    Ignore the Xs and Ys. We’ve talked about Y-DNA before and I’ll come onto X-DNA in a later post. Right now we are interested in the numbers 1 to 22: our 22 pairs of autosomal chromosomes.

    For each pair, one chromosome came from our father and one from our mother, in its entirety. So, for example, looking at Chromosome 1, perhaps the left hand chromosome came from our father and the right hand side from our mother.

    It is how we inherit autosomal DNA that makes it such a powerful tool for use with family history research.

     

    The Inheritance of Autosomal DNA

     

    The creation of eggs and sperm, in which DNA is passed from parent to child, occurs by a process called meiosis. During meiosis each chromosome is duplicated resulting in four copies of each chromosome, two paternal copies (in blue below) and two maternal copies (purple). DNA is then exchanged between the four copies, a process called recombination, which essentially mixes up the paternal and maternal DNA. Only one of the four chromosomes survives to be passed on in the egg or sperm. You don’t need to worry about the detail, the important part is that the two of each chromosome a parent has are mixed up so that a child receives a combination of both.

     

    Recombination (used with permission of DNA-Central.com)

     

    Let’s take this a step further with an example: the descent of DNA from a couple, John and Mary. We will just look at one chromosome pair but the same principle applies to all 22 chromosome pairs. In all cases we will assume that the left chromosome came from the father and the right from the mother. So, John’s blue chromosome is from his father and the purple from his mother, and so on.

     

    Autosomal DNA descent – 1 generation

     

    John and Mary have two children: Thomas and Sarah. Each child gets 50% of the DNA from their father and 50% from their mother, but in different combinations. Thomas gets two sections of blue from John and two sections of purple. Sarah gets the top half of the blue and the bottom half of the purple. They have each inherited DNA from their father but they have not inherited exactly the same DNA. The way in which they inherit from Mary is also different from one another. On average siblings share about 50% of their DNA but there is a range, as we will discuss further later.

    Next we look at the case where Thomas and Sarah and have children of their own:

     

    Autosomal DNA descent – 2 generations

     

    Here we see that Robert’s paternal chromosome (the one on the left) is a combination of the two chromosomes for Thomas. He has some sections, or segments, of DNA from both of John’s chromosomes, and some from both of Mary’s chromosomes.

    Robert’s cousin Elizabeth, also has segments of DNA from all four of John and Mary’s chromosomes but Robert’s and Elizabeth’s DNA are different from one another. On average first cousins share 25% of their DNA.

    There’s a really important point to note here. A grandchild CANNOT inherit DNA from his grandparent that was not passed from grandparent to parent. Look back to the example above. Robert cannot have the top portion of the purple chromosome of John’s, because John did not pass it to Thomas. Likewise, Elizabeth cannot have the bottom section of the blue chromosome, because John did not pass it to Sarah.

    We have started to talk about the percentage of DNA you receive from different ancestors. The further back in time you go, the less DNA you share with your ancestors on average:

     

    Percentage of autosomal DNA shared on average with ancestors

     

    In fact, the amount you share with your distant ancestors eventually becomes so small that there is a chance that you will not share any DNA at all. This is the second important point: You do not inherit autosomal DNA from every one of your ancestors. Whilst all of your ancestors are included in your genealogical family tree, even if some of them are yet to be identified, not all of your ancestors are included on what we call your genetic family tree. The genetic family tree is shown below, DNA is only shared with those ancestors shaded in grey:

     

    The GENETIC family tree (used with permission of DNA-Central.com)

     

    This could potentially be very frustrating if your aim was to find links to one of your great x 4 grandparents shown in white above. However, remember, the process of recombination is different each time. You may not have inherited DNA from that particular ancestor but your siblings, aunts and uncles etc may well have done. This is why it is always worth testing as many family members can you can.

     

    Uses of Autosomal DNA

     

    The primary use of autosomal DNA is for finding connections with those descended from common ancestors in recent generations, your close cousins.

    Potential uses of this type of testing include:

    • Confirming your family history research carried out so far using traditional research techniques
    • Expanding your family tree by connecting to those with whom you share DNA
    • Finding the answer to a particular problem or breaking down a brick wall
    • Use by adoptees searching for birth relatives (particularly powerful in combination with Y-DNA or mtDNA testing, as discussed in earlier blog posts).

     

    Who can take a test?

     

    Both males and females can take autosomal DNA tests and will find cousins in the same way.

     

    The Data

     

    So how do the tests work? When we talked about Y-DNA and mtDNA tests we talked about the raw data or comparing the raw data to reference standards. When your autosomal DNA is analysed data is collected at around 600,000-700,000 SNPs or positions. Below is a short extract from my Family Finder test results at Family Tree DNA. The entire spreadsheet contains 708,093 rows of data.

     

    Short extract of autosomal DNA data

     

    Rather than compare raw data the commercial companies do the data crunching for us using matching algorithms. Rather than look at the data in the form above we are presented with a lists of matches. Here’s an example, taken from the Ancestry website:

     

    Ancestry DNA matches

     

    You can see that there are a range of relationships assigned to my matches. In fact the top three matches are my father, my brother and my uncle. We have talked about the fact that on average you share about 50% of your DNA with each parent, and will share about 50% with a sibling. The average amounts of DNA shared with some of your other likely living relatives are shown in the table below:

     

    Amount of autosomal DNA shared on average with living relatives (from the ISOGG website)

     

    Don’t worry too much about what a cM is at this stage, just think of it as an amount of DNA. For each of the matches above you can click for more detail, for example my predicted third cousin match looks like this:

     

    Finding amount of shared DNA for an Ancestry match

     

    Clicking on the little “i” gives you the actual numbers. You can see here that Ancestry’s calculations have given me this match as a third cousin. If we look at the table above we can see that 147cM sits somewhere between a second and third cousin. In fact, I know this to be my second cousin once removed. As you can imagine there is a range for each relationship and the above table simplifies things considerably. If you want to look at things in more detail I suggest using this tool, which was developed using actual data from known DNA matches (click on the image for a larger version):

     

    Calculating relationships (used with permission of DNA-Central.com)

     

    Even better than this though, there is now an interactive version of the Shared cM Project, where you can type in your result and see the most likely relationships. For my 147cM match (again, click the image for a larger version):

     

    Possible relationships with a shared match of 147cM

     

    If we ignore the half relationships for now for simplicity, we can see that the known 2C1R (second cousin once removed) sits nicely in the middle of the possible relationships. You can try this for any of your matches.

    Incidentally, if you get confused about second cousins, cousins once removed etc there is some useful information on Wikipedia and the following chart is also useful:

     

    Explaining cousin relationships

     

    Investigating matches

     

    Once you have discovered some matches to your DNA data the next step is to start to work out how they connect to your family tree. They may have a family tree uploaded themselves and you may see familiar names. You may feel sure you know where there is a link and either need to work on your tree or theirs to bring the two together.

    The ease with which you can link to your connections will depend on how extensive the research is so far by both of you and how distant the proposed relationship.

    Depending on where you live in the world your matches at the various websites will look very different. The majority of those who have tested are still based in the US so you would expect US testers to have more close matches in their results. For example, a second cousin shares a common great grandparent. I think most of us are comfortable with our family history research back to this point. There’s a fair chance we identified most, if not all of our second cousins and if we haven’t, it would not be too onerous a task. Personally I have 5 first cousins and 25 second cousins, you may have more.

    Unfortunately I do not have any matches on any of the websites that are second or even third cousin matches (apart from people I have had tested). All of my matches are around fourth cousins or more distant relationships.

    So, let’s look at the likelihood of being to identify where a fourth cousin match fits into your family tree. A fourth cousin shares one set of your great x 3 grandparents with you, but you have 16 sets of great x 3 grandparents! Let’s say each couple between then and now has had an average of two children. Starting at the most recent generations that means my mother and father have one sibling each (my aunts or uncles). If they both have two children I will have 4 first cousins altogether. Are you with me so far? Building this up gives us the following figures:

     

     

    These are just figures based on easy to calculate assumptions. If we factor in studies of population change, two separate pieces of research suggest we could have on average 940 or 1572 fourth cousins (for more information visit the ISOGG website). In my own research I’ve identified 5 first cousins, 25 second cousins, 34 third cousins and 55 fourth cousins. I feel I have some way to go!

    So if you, like me, only have more distant cousin matches you need to come up with some clever strategies to focus your efforts appropriately.

     

    Testing other relatives

     

    One of the tools offered by Ancestry, Family Tree DNA, 23 and Me AND My Heritage is the ability to view matches “in common with” another match. I have tested my father and by looking at those in common with him I can be confident that these are probably* matches on my paternal side.

    You can narrow this down even more. I mentioned my second cousin once removed earlier. He is descended from the set of my father’s great grandparents that I am particularly interested in at the moment. As we have 4 sets of great grandparents, any matches that match both my father AND this cousin can be assumed to be probably linked to only one small subsection of my family tree. This is powerful stuff!

    The potential for different scenarios here is endless.

    * WARNING: This approach only works if your family tree is straightforward. You may be related to a match in more than one way or your parents may even be related to one another. All it takes is for one marriage of first or second cousins way back in time to completely complicate your genetic family tree.

     

    Analyse the data in more detail

     

    All discussion so far has looked at just the amount of DNA we share with our matches. However, remember our discussion about how DNA is inherited. If we can start to build up a picture of where in our DNA we have particular matches we begin to develop new powers!

    Although Ancestry has by far the greatest number of testers it is the only one of the big companies offering DNA matches with autosomal DNA that does not offer a chromosome browser.

    The image below shows the chromosomes on which a match occurs between my father and his second cousin. Assuming no complications in the family tree, this is DNA that can only have come from one set of my father’s great grandparents.

     

    Chromosome browser showing the match between second cousins (My Heritage)

     

    As you test more and more relatives and identify more and more matches with known connections through traditional research you can build upon this. In fact, you can begin to work out which parts of each chromosome came from each ancestor. Think of the potential for breaking down brick walls.

    The complicating factor is that we have two of each chromosome. If my father and his second cousin have a match on a chromosome with a third person in the same area as their match with each other does it mean that all three are related? Not necessarily. This is more easily demonstrated with an image. In the image below we are comparing the DNA on a single chromosome, let’s say chromosome 5. Each tester has two copies of the chromosome, one paternal (P) and one maternal (M).

     

    The comparison of DNA between matches on the same chromosome

     

    Brian and David are related on their maternal chromosomes (in blue). Both match to Adam in the same position. However, the data is different. Brian and Adam match on their paternal sides (in red), David and Adam match each other on David’s paternal side but on Adam’s maternal side (in green). So Brian is related to David, Brian is related to Adam and David is related to Adam but they are not all related to one another from the same ancestors. Are you still with me?

     

    This is called triangulation: we look at the match, as above, and when we bring in a third person we check to see whether they all match in the same location on the same chromosome with the same data. (It is highly unlikely we will have exactly the same data on both chromosomes for a length sufficient to be considered a match).

    Here is an example. This is the date from my father and his second cousin again but now with data added in from a third individual. Here the lady in question matches both individuals on chromosome 7 but there is an area of overlap indicating that this data all matches and is therefore on the same side for both my father and his second cousin:

     

    Chromosome browser showing a triangulated segment on chromosome 7

     

    In Summary

     

    This is only an introduction to autosomal DNA testing, to give you a flavour of what can be achieved. There is much more to add and many tools and external websites that can be used to look at the data and matches in more detail.

    If you want to learn more, I am pleased to announce that I will be running a four week online course, titled Demystifying DNA for Family Historians, for Pharos Teaching and Tutoring in 2019. More details may be found HERE.

     

    The Testing Companies

    Autosomal tests are available at all of the big 5 DNA companies:

    Ancestry DNA:

    Offers matches and amount of shared DNA but gives no chromosome data. Data can be downloaded for upload elsewhere.

    Family Tree DNA, 23andMe and My Heritage:

    All three offer matches, amount of shared DNA and chromosome data. Each has a chromosome browser to examine data in more detail. Data can be downloaded for upload elsewhere.

    Family Tree DNA and My Heritage offer free upload of data from other companies (though you will have to pay to use all of the tools available).

    Living DNA:

    To date Living DNA has focused on providing estimates of ethnicity and its selling point is that is provides a more detailed breakdown for those with UK heritage than other companies. Data can be downloaded for upload elsewhere.

    Matches are coming soon and uploads of data from other companies are accepted.

     

  2. Demystifying DNA 3: mtDNA testing

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    This is the third in my series of posts attempting to Demystify DNA testing for family historians. If you would like an overview to the many types of DNA test, do see the Introduction post. In my last blog we looked at Y-DNA testing in detail: when to use Y-DNA, who can test, where to test and how to interpret the results.

    This month we move onto mitochondrial DNA, or mtDNA, testing.

     

    Uses of mtDNA

     

    Mitochondrial DNA is to maternal research what Y-DNA testing is to paternal research as illustrated by the following schematic:

     

    The ancestors that may be traced using Y-DNA (blue) versus mtDNA (pink)

     

    mtDNA is specific to the matrilineal line, looking at your mother, her mother, her mother’s mother and so on. It does not include ALL of your mother’s ancestors, just those highlighted above.

    Just like Y-DNA, mtDNA is passed largely unchanged from one generation to another, enabling its use for tracing maternal ancient origins. You can also, in theory, use mtDNA to support your genealogy research. However this is complicated by the fact that the surname changes at every generation, making traditional research more challenging, and the way in which mtDNA mutates.

    Every now and again a mutation or copying error occurs with mtDNA, moving from one generation to the next. When I use the term “mutation” here I simply mean a change in DNA, no implication of anything to do with health. The main difference between the inheritance of mtDNA compared to Y-DNA is that the mutation rate of mtDNA is slower. A mtDNA match could share a common ancestor with you in recent generations or hundreds or even thousands of years ago.

    mtDNA is therefore not as useful for testing speculatively to find matches, as it is less likely that a mtDNA match will share with you a common ancestor in a genealogically relevant timeframe. The beauty of a match on mtDNA is the fact that you will know what small section of your family tree the match is connected to. Where mtDNA is particularly useful is for confirming suspected relationships. It is a very powerful test for comparing your own data with a suspected match to see if you are indeed related to the same maternal ancestor. This approach can equally be applied to adoption cases as to the situation where you have two candidates for your maternal great grandmother.

     

    Who can take a test?

     

    Contrary to popular belief, mtDNA tests can actually be taken by both males and females.

    mtDNA passes from a mother to her children, the difference being that only the females then pass this mtDNA on.  This is illustrated more clearly by the following schematic:

     

    Schematic showing the path of descent of mtDNA

     

    A is the great granddaughter of B. The diagram shows all descendants of B, outlined in blue or pink, depending on gender. Spouses are shown in black for clarity. The filled pink shapes indicate the path of descent of mtDNA. Remember, mtDNA is passed from a mother to her children but only her daughters will pass it on to the next generation. B had three children, but only her two daughters passed her mtDNA to the next generation, and so on.

    If A is unable to take the mtDNA test herself, you can see she has a number of options, assuming that the above represents only a bloodline. Her brother, C, could take the mtDNA test, her first cousin D, or even her second cousins, E and F. All have an unbroken line of female descent from B and all have the same mtDNA. This is an important point to note if you are looking to identify close living relative matches, say in adoption cases: a match could equally be a mother, sibling, aunt, cousin or grandparent, all of whom are descended from the same maternal ancestor, B.

     

    Types of Test

     

    Mitochondrial DNA is a circle of DNA, consisting of 16,569 base pairs. See the first post in this series, the Introduction, for an explanation of the terminology. Mitochondrial DNA consists of the following regions:

     

    mitochondrial DNA

     

    The area shown in white represents the hyper variable control regions (HVR1 & HVR2). These are the areas of the mtDNA known to mutate more quickly. They are therefore more likely to differ from one individual to another, unless they are closely related. The coding region undergoes changes less frequently.

    The first mtDNA tests analysed DNA in the HVR1 and HVR2 control regions only. Later mtDNA tests included both the HVR1 & HVR2 regions and the coding region. Some companies use SNP testing. Remember from the piece on Y-DNA testing, a Single Nucleotide Polymorph, or SNP, is a point along the DNA molecule known to differ from one individual to another – a point at which a mutation has occurred at some point in time. SNP (pronounced “snip”) testing analyses which nucleotide is found at many individual locations or SNPs.

    Also available for mtDNA are sequence tests. Rather than look at individual SNPs all base pairs are analysed in the region of interest. Early tests just looked at the base pairs in the HVR1 or HVR1 and HVR2 regions. Now it is possible to obtain a  full sequence test, which analyses all 16,569 base pairs. In much the same way as a higher number of markers on a Y-DNA STR tests gives you better data for comparison with others, more accurate mtDNA data is found with a full sequence test.

    If we imagine the ring of DNA opened out flat then a visual representation of the difference is:

     

    Graphical representation of Sequence vs SNP testing

     

    The Data

     

    When we looked at the Y-DNA STR tests we looked directly at the number of repeats at STR markers or the identity of bases at particular locations. mtDNA data analysis is different. Here we compare how each individual differs from reference standards. The first produced was the Cambridge Reference Standard (CRS), now superseded by the corrected revised Cambridge Reference Standard (rCRS), based on a European who had haplogroup H. A second standard, the Reconstructed Sapiens Reference Sequence (RSRS), was produced more recently and was an attempt to to compare mtDNA against a reference with an older haplogroup, closer to Mitochondrial Eve (see below for more on haplogroups). The details of the two standards are not appropriate here, more information can be found at the ISOGG website. It is, however, important to know which standard has been used by your testing company of choice if you are to compare results with those obtained elsewhere.

    Family Tree DNA supplies results against both reference standards. The images below show the (truncated) results of my own mtDNA test against the rCRS at Family Tree DNA.

     

    mtDNA results against the rCRS standard

     

    The results are actually reported in two ways, just to confuse you! In this case there are no differences to the standard in the HVR1 region. In the HVR2 region five differences are shown. The traditional way of reporting these is to the give the position number, followed by the letter of the base that you have compared to the original. So at position 152 I have C instead of the base of the rCRS. The second set of data (the lower table labelled “Revised Cambridge Reference Standard”) actually shows this more simply. It shows you that there should be a T at position 152 but I have a C.

    The addition of a “.1” indicates an addition at this position. In fact I have two additional Cs at position 309. Again this is more clearly seen in the bottom set of table for the rCRS results: there are no bases at 309.1 but I have two Cs. If a base is missing at a particular position it would be marked e.g. 309-, known as a deletion.

    Now let’s turn our attention to the RSRS results, again my own (truncated) data:

     

    mtDNA results against the RSRS standard

     

    There are some differences against the reference standard in the HVR1 region here. This is to be expected: The reference for the rCRS was in haplogroup H, as am I, whereas the reference for RSRS is based on older haplogroups. Here differences are marked:

    <reference base> POSITION NUMBER <your result>

    so you can readily compare the base in the reference standard with your own. For the RSRS results there are also extra mutations and missing mutations. These refer to differences from what is expected for my haplogroup compared to the RSRS.

    My current matches on mtDNA are show below:

     

    mtDNA matches at Family Tree DNA

     

    As you can see, I don’t yet have any matches at genetic distance of zero. A genetic difference of 1 means that there is a difference in my data compared to the other test taker’s data at one position, whether it be a different base, an addition or a missing mutation compared to their results.

    With Y-DNA we could calculate a reasonable estimate of the time to Most Recent Common Ancestor (MRCA) as Y-DNA mutations happen at a regular rate and there is some level of confidence in predictability. As I said earlier, with mtDNA the mutation rates are much slower and there is much greater range. The following table is taken from the Family Tree DNA website. Even if I had a match with a genetic distance of zero there’s only a 50% likelihood that person and I share an ancestor within 5 generations. It’s more likely that the common ancestor is somewhere within the last 5-22 generations.

     

    MRCA estimates for mtDNA (Family Tree DNA)

     

    mtDNA haplogroup

     

    What I find interesting is knowledge of my mtDNA haplogroup. Just as there is a haplogroup tree for Y-DNA, there is an equivalent mtDNA haplogroup tree, as all females are descended from mitochondrial Eve. An individual’s mtDNA haplogroup is their location in the human mtDNA haplogroup tree. Everyone fits on this tree, some branches dating far further back in time than those derived from more recent mutations. A simple graphic is shown below but there are many branches, or subclades, within each haplogroup.

     

    mtDNA haplotree (Wikipedia)

     

    Each haplogroup is connected to  particular time and place and more information on where the haplogroups originated can be found here: mtDNA haplogroups. My own haplogroup is H. This is a predominantly European haplogroup as I would expect and does not reveal anything exciting about my own family history. However, for those with a family story that 3x great grandmother was a local Indian girl that 3 x great grandfather met while he worked in British India, discovering the haplogroup can be very important.

     

    The Testing Companies

     

    Family Tree DNA:

    I’m only considering the main five DNA testing companies in this series of blogs, to keep things simple. Of these, only Family Tree DNA currently offers separate mtDNA tests. Both HVR1 / HVR2 (mtDNA Plus) and full sequence (mtFull Sequence) tests are available.

    Whilst the other DNA companies in “the big five” do not offer a separate mtDNA tests, some do provide the mtDNA haplogroup a part of their single combined DNA test:

    Living DNA:

    Living DNAs test results for includes measurement of roughly ~4700 positions on the mtDNA genome to define the haplogroup*.

    23 and Me:

    The 23 and Me DNA test results for include measurement of 2737 mtDNA single nucleotide polymorphisms (SNPs) to define the haplogroup*.

    * Data source: ISOGG wiki, MtDNA testing comparison chart.

    Remember

     

    Be careful with haplogroups – Y-DNA and mtDNA lettering conventions do not relate to one another. The Y-DNA haplogroup is an indication of paternal ancient origins, the mtDNA haplogroup an indication of maternal ancient origins. A man has both, a woman has only a mtDNA haplogroup.

    As with all DNA tests, the number of matches you get with mtDNA testing will depend on who else has tested. If you have no matches to start with: be patient.

    With any type of DNA test, the results obtained form only part of the analysis. DNA testing does not answer questions alone: it must always be assessed along with other information and documentary evidence.

    Next Up

     

    The next post will focus on the most popular type of DNA testing now: autosomal DNA, the type of test offered by Ancestry, My Heritage and Family Tree DNA (the Family Finder test) to find matches to close living relatives.

     

     

     

  3. Public or Private family tree? The results

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    A couple of weeks ago I posed the question “Public or Private family tree?” both here and on social media. I wasn’t intending to create a poll as such but so many have voted with their comments that I thought you would be interested in the results. The chart below is based on nearly 40 comments, both here on the blog and from Facebook and Twitter.

    For those that voted “private”, the reasons included previous bad experiences, a fear of information being copied wrongly, and a lack of confidence in making the research public. My own experiences were reflected in the comments: “Many times I’ve had people take information from public trees, yet they would not reply to messages”.

    Our next category are those who have “public” trees but solely for DNA matching purposes. This has become increasingly important, particularly on the Ancestry website where one aspect of matching known as “DNA Circles” requires a public family tree. Comments included “Now that I’ve done my DNA I want it public so I can make connections.” This is in fact what sparked my original post and why I am thinking of making the change from private to public.

    There were also a number of “both” votes: a detailed tree kept private and a skeletal or ancestors only tree for either making connections or DNA matching.

    By far the majority took the “public” vote, the most common reason being collaboration with others and making connections with distant relatives: “If you are wanting people to collaborate with you, you have to set an example and show a willingness to share”.

    So, the majority have it. I am “going public” with my family tree for the first time in years. The perfectionist in me screams “but it’s not ready!”. There are many areas I haven’t looked at for years and there is much still to be added, but when is family history research ever “finished”?

    I’ve moved my family tree into Family Tree Maker, I’ve pressed the “sync” button and, ah well, sync is down. I’ll try again later. Now that’s an opinion poll for another day…

     

     

     

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