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DNA Interpretation
by
Angela McLaughlin
November 5, 2006
Part I
What is DNA ?
DNA stands for DeoxyriboNucleic Acid. DNA is found in the cells of our body. In
simple terms it contains the instructions to build an organism (a person in this
case). A gene is a specific instruction. For example you might have a gene that
says you have blue eyes or one that says brown hair. These instructions are
passed from the parent to the child. A human has 46 chromosomes and inside and
each of these chromosomes are about 25 thousand genes. These chromosomes are
basically packages of DNA and the 46 are arranged in 23 pairs.
Of these 23 pairs, 22 are matched sets or autosomes. One pair (number 23) is not
matched and that is the DNA chromosome that decides if we are male or female. If
you are male then your 23rd chromosome contains a Y and an X. If you are a
female you have two X’s. Every egg produced by a woman contains an X chromosome
that is randomly chosen from one of the two she obtained from her parents (one
from dad and one from mom). Every sperm that is produced by a man either
contains the X he got from his mother or the Y he got from his father.
Genes are arranged in lines on the chromosome. Think of them as islands. In
between all the islands is the water. This water is called junk DNA because it
really has no purpose in the general instructions for the body. It is in that
junk DNA that we find the STR markers-those numbers on Bob’s DNA tests- that
determine relationships. So basically it does not tell you if you are going to
be tall or short and it does not tell you if you are going to have blonde hair
or brown. The genes do that.
Part II
Types of DNA
At this point in time there are four ways to test DNA. The first type is
autosomal where all 46 chromosomes (23 pairs) are tested. This is the test used
for paternity tests and forensic testing. This DNA is a combination of
everything that is passed down from our parents and includes the information
that determines our identity and our appearance.
The second type of DNA is Y-DNA. This is the testing of the Y chromosome, the
one that a man inherits from his father. This type of testing is typically used
in surname projects where individuals compare their DNA to look for
relationships. If a common male ancestor is shared by two individuals (or more)
then the DNA would be exact or very similar. Mutations due occur so the DNA can
have a few changes especially when you are sharing a common ancestor way back in
time.
The third type of DNA is X-DNA. Males have one X and females have two. The male
gets his X from his mother and the female gets one from each parent. This test
is difficult to do because the two X’s or the Y and the X are paired together
and they tend to share information which is difficult to separate from the X.
This test is generally not used for genealogy.
The final type is mt-DNA or mitochondrial DNA. The other types of DNA are found
in the nucleus (the center and brain of the cell) but this type is considered to
be non-nuclear as it is still in the cell but outside of the nucleus. It is
located in the cells that a mother passes to her children, both male and female.
Only females can pass this information onto their children.
Part III
How is the DNA test used in genealogy?
Because men are the only ones that have the Y-DNA it tends to passed from father
to son as an almost exact copy. It is passed along just as the last name is
passed. Scientists have organized types of Y-DNA into 24 (and the list is
growing) haplogroups. When two or more people have matches or near matches in a
haplogroup it means they share a common ancestor. The problem is that common
ancestor may have lived a long time ago. With mt-DNA that common ancestor may
have lived several thousand years ago and probably not less that many hundred
years ago when compared to a general pool of people. With mtDNA there are about
30 haplogroups. The basic answer to how this can help in genealogy is that you
might find a close match and determine where your ancestors originated. It is
helpful in sorting out people with common surnames such as Smith or Miller. It
can tell you if you and another person had a common ancestor. Bob’s DNA was
compared to others with the surname of Blackstone and similar spellings.
Unfortunately he didn’t match anyone but the pool of people is small and we may
have to wait until others with this same surname contribute to the mix.
The mt-DNA is generally not as helpful in genealogy but it is helpful in
determining if you mother’s ancestors where Native American or any other
distinct group of people. It could be helpful in a case where nothing known
about a female line.
Part IV
What do we know about Bob’s test?
The report from FamilytreeDNA.com suggests that his Haplogroup it R1b. The
others who were tested in the same pool were R1b but there were major
differences in the DNA pattern. According to Wikipedia.com, R1b1c, “Haplogroup
R1b is the most frequent Y-chromosome haplogroup in Europe. Its frequency is
highest in Western Europe (and due to European emigration, in North America). In
southern England the frequency of R1b is about 70% and in parts of Spain,
Portugal, France, Wales and Ireland, the frequency of R1b is as high as 90%.”
Bob’s DNA was further broken down to a subgroup called R1b1c. It is thought that
the people of this subgroup originated in central Asia and spread to Europe
before the last ice age. Of course this is speculative and not proven. With
further testing R1b1c can be broken down into even more subgroups but for us
this will not add or subtract from the information we now have.
Part V
Where now?
For now I believe we have to be content until more people submit their DNA for
testing. It wouldn't hurt to encourage any contacts we have with people who have
that surname to contribute. The bigger the pool the better. |
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