In reality, no population is “100% unmixed” or completely isolated from other populations. Genes can be shared between populations due to common origins, historical invasions, or slow diffusion by local contact over many generations. The result is admixture, the entry of one type of genes into the gene pool of another type.
Variation (number of repeats) of a chemical at a certain position in the strand of DNA, also referred to as marker scores.
amino acids
The building blocks of proteins. There are 20 amino acids, each of which is coded for by three adjacent nucleotides in a DNA sequence.
Computer program containing DNA profile data for about 400 populations. Used in our DNA Fingerprint, DNA Fingerprint Plus and other autosomal ancestry analyses.
autosomal markers
Unlike Y chromosome (male ancestry) or mitochondrial (female ancestry) markers, autosomal markers are distributed throughout all your chromosomes and represent your accumulated inheritance from all your ancestors. Examples of autosomal markers are the CODIS markers used by the FBI to identify crime suspects.
autosome
Any chromosome other than a sex chromosome. Humans have 22 pairs of autosomes.
base
Part of a nucleotide (a building block of DNA and RNA). In DNA, the bases are adenine (abbreviated A), thymine (T), cytosine (C), and guanine (G). RNA contains uracil (U) instead of thymine.
biogeographical
Type of mutation, or SNP (Single Nucleotide Polymorphism), in your genetic material whose analysis can show experts where your distant ancestors originated in prehistory, also what percentage of Caucasian, African, Asian and American Indian you are.
bioinformatics
The field of biology specializing in developing hardware and software to store and analyze the huge amounts of data being generated by life scientists.
Cambridge Reference Series
The mitochondrial DNA sequence of a British man named Anderson, used since 1981 as a comparison with others’ sequences. Differences from it are considered mutations (for instance a C instead of T at a certain position). Abbreviated CRS, or rCRS (revised).
cell
The basic subunit of any living organism; the simplest unit that can exist as an independent living system.
chromosome
A cellular structure containing genes. Chromosomes are composed of DNA and proteins. Humans have 23 pairs of chromosomes in each body cell, one of each pair from the mother and the other from the father. The 23rd chromosome pair in males is the sex chromosome and contains an X and a Y. It is the Y chromosome (Ycs) that determines the male gender. The Y chromosome has the unique property of being passed virtually unchanged from generation to generation (only from one male to another male). This means that a man and all his sons will have the same Y chromosome. Likewise, he will have the same Y chromosome as his father and grandfather and so one. Therefore, one’s profile, or haplotype, not only identifies him, but is also links him to his direct paternal line (pedigree).
CODIS Markers
CODIS stands for Combined DNA Index System, showing the 14 markers that are standard for states participating in the FBI’s crime-solving database. The same set of markers is used in paternity tests and our DNA Fingerprint Test.
The 13 standard or core CODIS markers (14, in addition to AMEL, which shows sex) are:
D3S1358
THO1
D21s11
D18s51
D5s818
D13s317
D7s820
D16s539
CSF1PO
vWA
D8S1179
TPOX
FGA
Cohen Modal Haplotype
The gene type of Old Testament priests and their descendants.
convergence
A phenomenon whereby two similar genetic profiles are independently produced in unrelated populations. A coincidental match without historical significance. An example is the Atlantic Modal Haplotype, which occurs in equally high frequencies in Northwest Spain and Ireland, the reason being that both of these geographical locations lie on the margins of Europe and experienced similar genetic drift. Another example is the resemblance of East Asian DNA to Native American, conceivably due to a common deep ancestry shared by the two peoples tens of thousands of years ago.
D-loop
The control, or reference series, region of mitochondrial DNA, consisting of four segments, including HVR1 and HVR2.
DNA Profiling
Also known as DNA fingerprinting and forensic DNA typing. A technique used to differentiate between two individuals using only their DNA. It was invented by Sir Alec Jeffreys of the University of Leicester in 1985 and rapidly became popular with crime experts, who used it to match blood and other evidence to a suspect’s DNA.
double helix
The shape that two linear strands of DNA assume when bonded together
ENFSI
The European Netowrk of Forensic Science Institutes
Multinational confederation of 27 European countries formed in 1992
familial Mediterranean fever (FMF)
fingerprint, DNA
An individual’s genetic signature as expressed in a certain set of markers, usually the CODIS markers. Used in our DNA Fingerprint Test and DNA Fingerprint Plus.
gene
An inheritable segment of the DNA molecule that contains information for making a protein or performing some function such as passing a genetic disorder or conferring longevity. Genes can be discontinuous across a strand of DNA.
gene frequency
the relative occurrence of a particular allele in a population
genetic code
The language in which DNA’s instructions are written. It consists of triplets of nucleotides, with each triplet corresponding to one amino acid in a protein or to a signal to start or stop protein production.
genetic counselors
genetic profile
Your unique set of numerical values or scores (alleles, mutations or STR repeats) at defined sites on your DNA (markers)
genetics
The scientific study of genes and heredity of how particular qualities or traits are transmitted from parents to offspring.
genome
All of an organism’s genetic material.
genotype, ethnotype
The genetic makeup of an organism, as characterized by its physical appearance or phenotype
haplogroup (female)
Mitochondrial haplogroups are female lineages in the world family tree. Each goes back to an a single ancient founder. Vincent Macaulay in his update to Richards et al. (1999) lists the characteristic mutations identifying haplogroups L, M, C, D, E, G, Z, N, I, A, W, X, R, B, F, Y, JT, J, T, U, and K. Brian Sykes coined names for the Seven Daughters of Eve for European female haplogroups or lineages.
haplogroup (male)
If a haplotype can be thought of as a twig on the family tree, a haplogroup is the branch. Each of these is linked to a continent (such as Europe) and often to a race (such as Asian). Common haplogroups are R1a, R1b, J, E3a, E3b, and I. See also Conversion Chart for Male Haplogroups.
haplotype
A haplotype can be thought of as a twig on the family tree.
haplotype
It is a person’s set of values for the markers that have been tested. Two individuals that match on all markers but one, have two distinct haplotypes (one-step mutation). Matching another person’s exact haplotype indicates you are genetic cousins and have a common ancestor. Haplogroups are the branches, and can be either male (based on ancient fathers’ Y chromosomes) or female (based on ancient mother’s mitochondrial DNA). They are the descents or mega-families that characterized early human migrations. These are normally associated with geographical regions. The origins of male haplotypes are measured in hundreds of years, whereas those of female haplotypes go back thousands. Examples of male haplogroups: R1b (Western Atlantic European), I (northern Europe), J (Jewish, Middle Eastern).
heredity
the transmission of characteristics from one generation to the next by genes
HVR1
Hypervariable region 1 of the D-loop of mitochondrial DNA ranges from nucleotide position (np) 16001-16570.Our genomics lab looks at the range extending from np 16020 to np 16569 and determines its base (A, G, C or T) for our mitochondrial DNA ancestry tests. Also known as HVS1, or Hypervariable Segment 1.
HVR2
Hypervariable Region 2 is an extended part of the control, or reference, series of nucleotides in the D-loop, each containing one of the four bases, A, C, T or G. Study the Cambridge Reference Series. Our lab examines HVR2 from 1 to 390. All these loci are tested for our premium mitochondrial tests. The addition of HVR2 to HVR1 gives you twice as much detail for matches. Also called HVS2, or Hypervariable Segment 2.
Within the same narrow sub-population. One example of in-group marriage practices is found in European royal families.
lineages
branches on the family tree: either male (Y chromosomal) or female (mitochondrial)
linkage disequilibrium
association of a particular gene with a particular family inheritance
match (autosomal)
Seeming to have the same markers as another person, expressed as a very low Random Match Probability or very high Match Likelihood. The polymorphisms displayed at each locus on the DNA are by themselves very common. Typically, each allele (variation) will be shared by around 5-20% of individuals. When looking at multiple markers, it is the unique combinations of these polymorphisms to an individual that makes DNA Fingerprinting such a good identification tool. The more markers that are tested the more discriminating the test becomes, and the higher the relief in population matches. The standard number is 16.
Melungeon
An ethnic group found primarily in the lower Appalachian mountains of Kentucky, Tennessee, Virginia, North Carolina and Alabama. Often termed a “triracial isolate” because of its unique mixture of Native American, European and African families. Bibliography
minisatellites
Repeated sequence of chemicals. Different numbers of repeats produce one’s alleles, or DNA test scores.
mitochondrial
DNA sequences located outside the nucleus of each cell. An exact copy is passed by a mother to her children, making it possible to trace maternal descents.
mitochondrial migrations
Spread of female lineages as determined by mitochondrial haplogroups out of Africa into the other continents. See World Migrations Map.
morphology
The study of similarities and differences in the anatomy or appearance of humans
multiplexing
A sequencing approach that uses several pooled samples simultaneously, greatly increasing sequencing speed and lowering the cost of DNA testing.
mutation
A change in a DNA sequence, either spontaneous within a generation or inherited, sometimes from a very distant ancestor. Mutations usually do not affect our health or cause any differences in our appearance. In other words, they are not genes proper and do not “code” for new proteins. Even though they are non-coding genes, though, they are useful in tracing lineages.
non-coding DNA
Also known as “junk DNA” (although recent research casts doubt on the supposition there is any DNA that does not perform a function, if only as a holding place).
nucleotide
A building block of DNA or RNA. It includes one base, one phosphate molecule, and one sugar molecule (deoxyribose in DNA, ribose in RNA).
oncogene
A gene, one or more forms of which is associated with cancer. Many oncogenes are involved, directly or indirectly, in controlling the rate of cell growth.
PCR
The polymerase chain reaction, a quick and easy method for generating unlimited copies of any fragment of DNA. Used to multiply your sample for lab processing.
physiognomy
The general appearance of a person without reference to its underlying or scientific characteristics; in the past, associating appearance with a person’s character.
profile frequency
Chance of a random match for your profile (that is, it seems identical to another person).
The odds that another human being would have your exact DNA Fingerprint or genetic profile, or that the match is a mere coincidence. Expressed as, for instance, 1E+21, in other words 1 followed by 21 zeros, that is, a 1 in 1,000,000,000,000,000,000,000 (sextillion) chance that such a coincidence would occur.
sequencing
Determination of the order of nucleotides (base sequences) in a DNA molecule.
sex chromosomes
Chromosomes that are different in the two sexes and involved in sex determination. Males receive XY, females XX.
pronounced “snip”: single nucleotide polymorphism
Short Tandem Repeat DNA Internet Database, created by John M. Butler and Dennis J. Reeder at the National Institute for Standards and Technology Biotechnology Division
test range
Different studies of mitochondrial DNA look at different ranges of nucleotide positions, many reporting only HVR1 mutations. The position 16519 is rarely included in published studies. Richards et al. 2000 generally includes only 16090-16365.
Y chromosomal markers
DNA Testing Systems uses a 25 Y-STR locus standard for male DNA tests. These results allow us to search the YHRD and form a picture of the geographical distribution and origin of your wider haplotype and its neighbors.
