allele: variant of a gene or genetic marker. Each
allele is the number of repeats of the short base sequence.
base : the building block of DNA, one of four
molecules that link up to make a DNA chain. The four are named
adenine, cytosine, guanine, and thymine (A, C, G, T for short).
buccal : pertaining to the cheeks or the mouth cavity
in general. Buccal cell samples for analysis can be obtained easily
and painlessly by a gentle brushing or scraping of the inside of the
mouth.
chromosome :one of the DNA macromolecules
found in the cell nucleus. Humans have 46 chromosomes. See also X
and Y.
DNA : deoxyribonucleic acid. The chemical
constituent of genes and chromosomes. DNA has four different base
units, designated A, C, G, and T, which are connected in long double
chains, and the sequence of these bases encodes the genetic
information.
DYS : DNA Y-chromosome Segment. A label
for loci or genetic markers on the Y chromosome. Each marker is
designated by a number, according to international conventions. At
present, virtually all the DYS designations are given to STR markers
(a class often used in genetic genealogy because of their relatively
high mutation rate).
gene : a meaningful sub-unit of
DNA, encoding a protein.
genome :the entire repertory
of nuclear DNA in an organism.
haplogroup :
One way to think about Haplogroups is that
a Haplogroup is a branch on the tree of Homo Sapiens and a Haplotype
represents the leaves of the tree. All the Haplotypes that belong to
a Haplogroup are leaves on the same branch. The Haplogroup database
tells you about your deep ancestral origins. A SNP test of the Y
Chromosome, which tests deep ancestral Markers, determines the
Haplogroup.
The Y Chromosome Consortium has defined 18 major
Haplogroups, called A through R, using capital letters. Each of
these major Haplogroups, which are also called clades, can have
subgroups, which are called subclades. The 18 major groups at the
top level, A through R, represent the major divisions of human
diversity based on SNPs on the Y chromosome.
haplotype : a set of allele
values of many markers measured for one individual and identified as
coming just from one parent, particularly markers on the Y
chromosome.
locus : (plural: loci) specific site on a
DNA chain.
marker : a distinctive sub-unit of DNA,
often not part of a gene. Often used interchangeably with locus, but
referring to the contents of the site, rather than the site itself.
mutation : An event in which the DNA chain alters. In
the case of STR markers, a mutation is almost invariably the gain or
loss of one repeat of the basic short sequence (or, rarely, two
repeats). Other types of mutations include the substitution of one
base for another and the insertion or deletion of a whole segment.
"Mutations are very rare occurrences but necessary to
figure out the Most Recent Common Ancestor (MRCA) of two or more
individuals with matching DNA. The Y-Chromosome is
passed from father to son and the vast majority of the time the father
passes an exact copy of his Y-Chromosome to his son. This means that the
markers of the son are identical to those of his father.
However, on
rare occasion there is a mutation or change in one of the markers. The
change is either an insertion or a deletion. An insertion is when an
additional repeat is added to a marker. A deletion is when one of the
repeats is deleted.
Mutations occur at random. This means it is
possible for two distant cousins to match exactly on all markers while
two brothers might not match exactly. Because of the random nature of
mutations we must use statistics and probability to estimate the Time in
generations to the Most Recent Common Ancestor (TMRCA).
The actual calculations of TMRCA are
mathematically complex and depend on knowing the rate of mutation and
the true number of mutations. At this time there is not enough data to
accurately determine either of these factors so certain assumptions have
to be made. Rate of Mutation = .002. This assumes that any given marker
has a .002 chance of mutating with each generation. In other words, we
could expect any marker to mutate once in 500 generations. The rate of
.002 is considered conservative and is the average of a number of
studies. It will result in a TMRCA that is longer than higher mutation
rates."
As more markers are tested on our samples
more will be revealed as far as finding the generation of where their
Most Recent Common Ancestor (MRCA) occurs. Excellent discussions and
graphs on the importance of the MRCA can be viewed at
http://www.ftdna.com/faq2.html and
http://blairgenealogy.com/dna/dna101.html
.
PCR : Polymerase Chain Reaction. A chemical process
that replicates a given sample of DNA many times, in imitation of
natural replication. The process cycles between two stages:
splitting the two strands of DNA apart and then forming new double
strands by adding a mixture of the four DNA bases. By adding primers
as well, the process can be used to replicate just the one or more
DNA segments of interest.
primer : a reagent
consisting of a relatively short DNA sequence exactly matching the
sequence flanking a marker of interest. A primer needs to be long
enough that (in principle) it matches only one spot in the entire
human genome, but, in practice, many segments of human DNA appear
more than once, through a poorly understood process of duplication.
Two primers, one for each end of the desired marker, are used in the
PCR amplification step to selectively amplify that marker. The
primers are often tagged with a fluorescent dye to help in detecting
the amplified DNA segments.
STR : Short Tandem
Repeat. Also known as microsatellite. This is a genetic marker
consisting of multiple copies of a short sequence of DNA bases
(typically three or four). Occasionally, one will mutate by the gain
or loss of one repeat.
X : one of the two
sex-determining chromosomes, See also Y.
Y : one of
the two sex-determining chromosomes. A person with the combination
XX is female, while a person with XY is male. The Y chromosome,
unlike the others, does not trade DNA with a "partner chromosome,"
and it therefore passes intact from father to son. This property
leads to a minimum of ambiguity in interpreting the results of Y DNA
analysis.