Haplotype (HT) vs. Haplogroup (HG)

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"What's Your Sign?" is passe. Now it's "What's Your Haplogroup?"
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Haplotype (HT)

Haplotype (HT) - /hap•lo•type/ - A set of numbers or letters obtained from the DNA test of an individual. A set of alleles for genetic markers (a set of gene or genetic marker DNA sequences) inherited as a unit. A contraction of the phrase "haploid genotype". Different combinations of polymorphisms at a set of polymorphic sites are known as haplotypes. The term haplotype is commonly used term in Genetic Genealogy for the series of DYS Y-STR numbers which are the allele values of the test results of a set of genetic markers of a Y chromosome (paternal line) test, i.e., the Y-DNA test. Example: DYS393=13, DYS390=24, DYS394(aka19)=14, DYS391=11, DYS385a=11, DYS385b=16, DYS426=12, DYS388=12, DYS439=12, DYS389-1=13, DYS392=13, DYS389-2=29. The term is also often used in genetic genealogy discussions to describe a set of alphanumeric results from a mtDNA (maternal line) test. Example: 16162G, 16519C, 73G, 263G, 309.1C, 315.1C. Comparing haplotypes of two or more people is what is done in a genetic genealogy project to determine the degree of genetic relationship between their respective lines and combined with other information such as having the same or similar sounding or meaning surname, determine if their lines are closely related within a time frame of genealogical interest, i.e., the time since the adoption of surnames. Source: Genetic Genealogy DNA Testing Dictionary

Example Provided in Family Tree DNA Website for Understanding and Comparing Test Results

Example of Comparing Individual Haplotypes within a Surname Project from the Kerchner Surname Project

Haplogroup (HG)

Haplogroup (HG) - /hap•lo•group/ - A group of similar patterned and related descendant haplotypes which share a common ancestor defined by a unique event polymorphism (a one-time SNP mutation) at a specific locus in their DNA sequence, i.e., a UEP. Haplogroup branches are assigned alphanumeric designators by geneticists. These alphanumeric haplogroup branch names are diagramed in tree format on a chart to link human beings together to form a Phylogenetic Tree. There is a Phylogenetic Tree for the male lines of descent and one for the female lines of descent. For example for the male line mode of genetic marker inheritance, the Y chromosome, R1b1 is the Y chromosome haplogroup branch alphanumeric label given to those who test positive at the UEP SNP locus named P25, i.e., P25+ means you are part of the Y chromosome haplogroup sub-branch named R1b1 and your Y chromosome would be located on that part of the YCC Phylogenetic Tree. R1b1 would be a smaller branch of R1b. R1b would be a smaller branch of R1. And R1 would be a smaller branch of the major branch R. For the female line mode of genetic marker inheritance, the mtDNA molecule, H1 is a common alphanumeric haplogroup sub-branch for the major H haplogroup branch for the maternal line mtDNA molecule Phylogenetic Tree. Different sets of alpha-numeric designators are given to male Y-DNA haplogroup branches and female mtDNA haplogroup branches. A commonly occurring paternal line Y chromosome major haplogroup branch found in males tested today is the alphanumeric R1b, which is found in high frequency in Western Europe males and direct male line descendants of European males from that area. A commonly occurring maternal line mtDNA major haplogroup branch found in people tested today is the letter H and is found in high frequency in Western Europe and direct maternal line descendants of European descendants from the area. The major maternal line mtDNA haplogroup branches have been even further personalized by Dr. Brian Sykes in his book, "The Seven Daughters of Eve." Since the mtDNA haplogroup branches represent common maternal lines, he gave the haplogroups female names which correspond with the first letter of those major mtDNA haplogroup branches. For example my maternal line mtDNA haplogroup is the letter H. And the female name Dr. Brian Sykes gave to that haplogroup is Helena. He also made up a little story about each of these seven female ancestors in his book to try to describe their life and times 10's of thousands of years ago when he surmises they lived in various parts of what is now Europe. Haplogroups are mainly used for anthropological research and deep ancestry research for time frames long prior to the adoption of surnames. We're talking 10's of thousands of years ago when these haplogroups became defined. Knowledge of one's haplogroup, while interesting, does not typically provide much assistance to the genealogist other then pointing to a large geographic area of the world where that haplogroup is found in high frequency. For traditional genealogical research, haplotypes are more important than haplogroups. While the definitive test to determine your haplogroup is a SNP test, many times your haplogroup can be estimated with a reasonable confidence level based on your haplotype test result data. There is quite a bit of dialog online about estimating and knowing one's haplogroup. But as I said, knowing one's haplogroup is of very limited use to traditional genealogical research which is typically focused on the last several hundred years. Source: Genetic Genealogy DNA Testing Dictionary

An Example of the Paternal Line Y Chromosome Haplogroups Phylogenetic Tree Provided by ISOGG.org

An Example of the Maternal Line MtDNA Molecule Haplogroup Phylogenetic Tree per 2004 Paper

Some Examples of the Anthropological/Deep Ancestry Information Provided by Determining One's Haplgroup

Get a DNA Haplogroup Lapel Pin for Your Haplogroup

An example tool using your genetic genealogy YSTR DNA test Haplotype (HT) marker data to suggest your anthrogenealogical Haplogroup (HG)
Whit Athey's Y-Haplogroup Predictor

Charles F. Kerchner, Jr.
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Webpage Created - 29 Sep 2005
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