GENETIC DEFINITIONS
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GENETIC DEFINITIONS

Alleles -- One of the different forms of a gene of DNA sequence that can exist at a single locus.  Alternatively, one of several alternate forms of a gene occupying a particular location on a chromosome.

Atlantic Modal Haplotype (AMH): a haplotype consisting of the following markers and alleles, as frequently seen in Europe:
AMH definition:

Marker DYS388 DYS390 DYS391 DYS392 DYS393 DYS19
AMH 12 24 11 13 13 14

If you have one mutation in either direction, then you are AMH 1.15+. The AMH 1.15 haplotype is also referred to as the Atlantic Modal Cluster or AMC. Generally 1.15+ puts you in haplogroup 1 (H1), but not always.

Chromosome -- Is composed of DNA, which itself is composed of four (4) nucleotides:   A (adenine);  T (thymine);  C (cytosine);  and G (guanine);  Chromosome = thread-shaped structure occurring in cell nucleus, which transmits hereditary characteristics.

Cohen Modal Haplotype (CMH):

Marker DYS388 DYS390 DYS391 DYS392 DYS393 DYS19
CMH 16 23 10 11 12 14

These studies asserted that Ashkenazic Cohens are strongly related to Sephardic Cohens and that therefore these priestly Jewish communities have strong DNA relations (the general Jewish populations do not). The priestly sect "Cohanim" (singular is Cohen) were descended directly from Aaron, the brother of Moses, all members of the Tribe of Levi. Aaron was anointed as the first High Priest (the "Cohen Gadol"). In Hammer's 1997 studies of Jewish priests, some of the markers looked at were SRY4064 (464?), SRY 465, Tat, and sY81 polymorphisms. There were 6 markers studied which are known as the Cohen Modal Haplotype (CMH). [In "Y Chromosomes of Jewish Priests", it is stated that they tested for YAP+ (presence of Y Alu Polymorphic insert), YAP-, and DYS19 (known also as DYS394)]. Descendants of the Cohanim, as part of their haplotype, have YAP- and DYS19B.

Clone: To make multiple identical copies of a DNA sequence.

DNA: stands for deoxyribonucleic acid. A molecule made out of two strands that are tied together by hydrogen bonds; each strand being made up of a sugar, a phosphate group and one of four bases (adenine, guanine, cytosine or thymine).

DYS: Stands for D = DNA, Y = Y-chromosome, S = segment (segment in y-DNA testing means Short Tandem Repeat). A marker on chromosome 1 would be D1Snnn. Markers which are found on both the X and Y chromosome are DXYSnnn. The numbers after the DYS are arbitrary numbers, assigned in the order that they were discovered. From Ann Turner: "A marker on chromosome 1 would be D1Snnn. Markers which are found on both the X and Y chromosome are DXYSnnn. The numbers after the DYS are arbitrary numbers, assigned in the order that they were discovered." The DYS numbering scheme (e.g. DYS388, DYS390) for the Y-STR haplotype loci is controlled and administered by an international standards body called HUGO Human Gene Nomenclature Committee based at University College, London.

Generation: The average interval of time between the birth of parents and the birth of their offspring. For purposes of DNA testing, one lab (FTDNA) uses 20 years, and others appear to be hovering around 25 years. Some people have found that in their families a generation could be about 30 years. When you are trying to estimate the time to the most recent common ancestor (MRCA), the results will differ depending on the number of years used for a generation.

Melungeon: DNA test results on Melungeons was released in late June 2002 by Dr. Kevin Jones of the Univ. of Virginia at Wise. These tests showed that Melungeon descendants had 5 percent African ancestry and 5 percent Native American ancestry, with the other 90 percent ancestry from Euroasia. Melungeons are a people of apparent Mediterranean descent who may have settled in the Appalachian wilderness in America as early, if not earlier, than 1567. The Mediterrean includes areas of North Africa, southern Europe and Central Asia. New evidence soon to be forthcoming also indicates that there is a probable connection to the Melungeons from a region in Angola, Africa called the Melange. The Melungeons almost certainly intermarried with Powhatans, Pamunkeys, Creeks, Catawbas, Yuchis, and Cherokees (from Nancy Sparks Morrison--used with her permission). See Melungeon Information

mtDNA: Mitochondrial DNA is DNA found in a mitochondrion. Mitochondria are organelles, if you will, that harness the majority of the usable energy from a simple sugar molecule. Individual mtDNA molecules are small and usually circular. Mitochondrial genomes are also characterized by a very high mutation rate.

Note: It has always been assumed that mtDNA is inherited by sons and daughters only from the mother. A new 2002 study [Marianne Schwartz and John Vissing from the University Hospital Rigshospitalet in Copenhagen, Denmark; New England Journal of Medicine (vol 347, p576)] showed that mtDNA can be inherited by both parents. This is believed to be extremely rare and should not interfere with mtDNA testing. We await confirmation from other scientific studies. See Paternal mtDNA

DYS -- D = DNA:  Y = Chromosome;  S = (STR) Single Tandem Repeats;  The DYS numbering scheme (e.g. DYS388, DYS 390) for the Y-STR haplotype loci is controlled and administered by an international standards body called HUGO, Human Gene Nomenclature Committee based at the University College, London.

Gene -- The fundamental and functional unit of heredity.

Generation: The average interval of time between the birth of parents and the birth of their offspring. For purposes of DNA testing, one lab (FTDNA) uses 20 years, and others appear to be hovering around 25 years. Some people have found that in their families a generation could be about 30 years. When you are trying to estimate the time to the most recent common ancestor (MRCA), the results will differ depending on the number of years used for a generation.

Haplotype -- Refers to a single or unique set of chromosomes.  A set of closely linked alleles (genes or DNA polymorphisms) inherited as a unit.   Different combinations of polymorphisms are known as haplotypes.

Haplogroup -- Haplogroups are groupings of individuals with the same genetic characteristic such as restriction enzyme recognition sites or deletions at the same location on the DNA. A haplogroup is a "Distinct Y chromosomes, defined solely on the basis of unique mutation events (UME) character states, are designated as haplogroups." Each haplogroup consists of a variable number of Y chromosomes that share the same UME character state but vary in Y-STR haplotype.(from Peter de Knijff). More generally, haplogroup can be defined as a cluster of similar haplotypes. Wilson's paper (Helgason's were slightly different) gives the "modal" haplotype (the single most common haplotype) for his set of subjects in haplogroups 1, 2, and 3 (the most common European haplogroups):

Marker DYS388 DYS390 DYS391 DYS392 DYS393 DYS19
HG1 12 24 11 13 13 14
HG2 14 22 10 11 13 14
HG3 12 25 11 11 13 16

The above are modal haplotypes; see Wilson's study. The HG2 haplogroup is the Nordic group. If your results match one of the above patterns, or differ in just one marker, we feel some confidence in classifying your haplogroup. For a list of haplogroups, see Y Chromosome Consortium [Y chromosome haplogroup tree and nomenclature].

Results that match HG2 indicate a strong connection with Nordic (Scandanavian) countries. The HG2 Nordic Haplogroup is one of two Nordic Haplogroups. This indicates that the family of origin were probably of Viking descent or a male ancestor was of Viking blood.

Loci -- The position that a given gene occupies on a chromosome. (Plural)

Locus -- A specific location on a chromosome. (Single)

MH -- Modal Haplotype = Any person who matches exactly the alleles found to be most common among the descendants of a person.  A person who matches 11 alleles whiile being only one off in only one (1) loci, will be considered to be in the haplogroup, rather than in the family haplotype.

Modal -- The value at which an absolute or maximum occurs in the frequency distribution of the variant.

MRCA -- The Most Recent Common Ancestor between two people.

Mutation -- Small changes during the DNA copying process during transfer from father to son

STR -- Short Tandem Repeats = A VNTR (see below) in which the repeated sequence is from one (1) to five (5) base pairs.

Y-chromosome -- is passed down from generation to generation only through the male line;  from father to son, father to son, etc.

YCAII: a highly polymorphic dinucleotide repeat locus now known as DYS413. Sometimes this is shown as YCAIIa and YCAIIb. I assume also that you would see DYS413a and DYS413b.

YGATA: YGATA A7.1 is now designated and known as DYS460, a tetranucleotide (polymorphic) locus. YGATA A7.2 is now DYS461. YGATA A4 is now DYS439. Other polymorphic loci are YGATA H4, YGATA A8, YGATA A10 and YGATA C4.