24. Genetics and genealogy.
24.1 Genetics. Human cell.
Humans have about 100 trillions (100x1012) cells - the smallest units of a living organism that are able to conduct all basic living processes. The space located between the cell's outer membrane, and membrane of the nucleus is filled with organelles. Organelles are bodies embedded in the cytoplasm that serve to physically separate the various metabolic activities that occur within cells. Each organelle is responsible for producing a certain product that is used elsewhere in the cell or body. Some genetic material is located in organelle called mitochondria, but most of it exists in the form of chromosomes and is located in the cell's nucleus. Chromosomes are composed of both proteins and chains of deoxyribonucleic acid called DNA. The human body consists of 23 pairs of chromosomes, including one sex pair: XX in women and XY in men. Each pair contains one chromosome inherited from the father, and the other one inherited from the mother. DNA function has been defined as a set of genetic instructions that create an organism. DNA normally exists as a double-stranded molecule, coiled into the shape of a double-helix. DNA is composed of a chain of nucleotides, of which there are four types: adenine (A), cytosine (C), guanine (G), and thymine (T). Genetic information exists in the sequence of these nucleotides. (1), (2)
24.2 Genome, mutations, and genetic markers.
The genome is defined as the full set of hereditary material in an organism (usually the combined DNA sequences of all chromosomes). Beginning of the twentieth first century brought the possibility of testing the whole human genome, but because of high cost, it is performed sporadically.
One of the basic discoveries of genetics was the finding of mutations. During the process of DNA replication, errors occasionally occur in the polymerization of the second strand. These errors (mutations) alter an organism's genotype and occasionally cause the apperance of different characteristic of an organism (phenotypes). Most mutations have little effect on an organism's phenotype, health, or reproductive fitness.
Mutations cause changes in the frequency of a gene variant (allele) within a population's gene pool. Such occurrence can cause the genetic composition of a population to change in one direction or another. Combined with natural selection, genetic drift is the principal force in biological evolution. (3), (4).
A genetic marker is a gene or DNA sequence with a known location on a chromosome. It can be used to identify cells or individuals. A marker can be described as a variation (which may arise due to a mutation or an alteration in the genomic loci) that can be observed. A genetic marker may be a short DNA sequence, such as a sequence surrounding a single base-pair change (SNP), or a long one. Mutations called SNPs, and STR copying mistakes arise in the Y chromosome.
24.3 Applications of genetics.
The practical use of genetic science has been introduced in the 1980s as a field of genetics sought to understand how genetic variations relate to human health and diseasse. When searching for an unknown gene that may be involved in a disease, researchers commonly use genetic linkage and genetic pedigree charts to find the location on the genome associated with the disease. As an extension, the genetic sciences have been used in crime investigation, and later to distinguish fatherhood, in will cases, and in immigration cases.
Thanks to extensive advancements in genetics, it will be possible to establish the ethnic genesis of the human kind, including Indo-European groups, Slavic people, the Wislanie tribe (A), and then the Janina clan.
24.4 Genetics in the hands of Genealogy..
Genetics and genealogy are connected by the possibility of tracking in time common markers (mutations) from the moment they occurr. A set of DNA markers forms a matrix, which is a derivation of conventional genealogical tree. Comparing the results of research allows the establishment of relationships, and to identify the common ancestors. The results do not supply data used in conventional genealogical searches which exclude the place of origin, or last names of ancestors. The results of genetic tests can help genealogists to prove some civil records, help to solve uncertainty due to adoption or change of last name, as well as to prove or disprove the relationship with another genealogical branch.
As stated above, each person normally has 23 pairs of chromosomes, including one pair of sex chromosomes in each cell. Females have two X chromosomes, whereas males have one X and one Y chromosome. Both males and females retain one of their mother's X chromosomes, and females retain their second X chromosome from their father. Since the father retains his X chromosome from his mother, a human female has one X chromosome from her paternal grandmother (father's side), and one X chromosome from her mother. The Y chromosomes (Y-DNA) are male-specific sex chromosomes; nearly all humans that possess a Y chromosome will be morphologically male. Y chromosomes (Y-DNA) are therefore passed from father to son.
Male ancestral lines are determined based on research of chromosome Y, and female lines are established based on so call mitochondrial DNA..
Mitochondria are small organelles that lie in the cytoplasm of eukaryotic cells, such as those of humans. Their primary purpose is to provide energy to the cell. Mitochondria contain a relatively small circular segment of DNA, called mitochondrial DNA (mtDNA). Inherited cytoplasm and the organelles are derived not from nucleus, but from the mother'sovum (egg cell). (5)
24. 5 Haplogroups and Genetic Tree.
The search of chromosome X and Y delivered new categories of DNA called "halpogroups". In genetics, a haplotype (from the Greek: haplo�s, "one fold, single, simple") is a combination of alleles at multiple loci that are transmitted together on the same chromosome.
Testing of chromosome Y, or mtDNA will determine membership of particular marker, and establish localization at the genetic tree. There are two genetic trees: male and female one. The male tree reaches about 80 thousands years back, and the female one reaches about 160 thousands years. Both trees connect us to the earliest male ancestor called genetic Adam, and earliest female ancestor called genetic Eva.
It has been proved that distance between mutations ranges from few to hundreds of generations, and that a probability of mutation occurrence has constant value for a particular haplogroup.
24.6 History of human migration.
Genetic research that deals with early human migration and ethnicity are based on classification of DNA groups. Based on analysis of Genographic Project database it's authors created history of human migration from genetic Eve to prehistorical period. This is how results are presented in 2008.
The beginning of homo sapiens go back to around 160 thousands years ago, and are localized in Central Africa. This group bears the oldest mutations: L0, L1, L2 and L3 (mtDNA). Around 60 thousand years ago some of them migrates to Arabian Peninsula, where occure new mutations: M1, and M (mtDNA). About 79 thousand years ago in Africa first members of YDNA apears: M0, M60, and M91. Around 55 thousand years ago, the M130-174 migrated to Australia, group M (mtDNA) appeared in Thailand, and neardental group N (mtDNA) show up in today's Turkey. During the period of 45-50 thousand years ago group M (mtDNA) was divided into C, D, Z, and M89 (YDNA) appeared in Arabian Peninsula . Later, between 40-45 thousand years ago group R (mtDNA) was divided into PreHV, KU, JT, NI, I, W, and traveled north. Another group M89 (YDNA) originates group M9 and moved to Central Asia. The period of 35-40 thousand years ago was migration of M9 to today's Philippines, and group M173 (YDNA) migrated toward Ural Mountains. 35-30 thousand years ago in the region of the Caspian Sea group A (mtDNA) originated, and M173 (YDNA) traveled to today's Spain. During glaciations of Northern Europe, around 25-20 thousand years ago, group B (mtDNA) come to South America, and M170 moved from Arabian Peninsula to South-Central Europe. 10 thousand years later group PreHVT (mtDNA) mutated into H, V, and HV and settled down in Southern Europe. Around 10 thousand years ago, among those settled at the steps of today's Ukraine or southern Russia, haplogroup R1A (mutation 17) migrated east to Middle East, and west as far as to Iceland. Now at the area from today's Czech and Poland to Central Asia about 40% of men belong to haplogroup R1A. The members of this group called Proto-Indo-Europeans created early Indo-European languages. (6)
While it looks complicated, it also gives an insight into the evolution and migration of mankind during the pre-historical period.
The attached Y-DNA genetic tree presents markers (mutations) from genetic Adam to haplogroup R1A.
Each branch called the haplogroup is added to the genetic tree each time when ancestor's genetic code changes (YDNA or mtDNA). This unique change called a mutation in the case of Y-DNA is called a Single Nucleotide Polymorphism (SNP). Each ancestor whose genetic code changed causing the mutation, transfers such mutation to the next ancestor. SNP mutations can be called as M173, or SRY10831.1., and sometimes one mutation may have two different names. Very similar process takes place in genetic tree mtDNA. (7)
Early mutations (SNP) are marked with single letters starting with letter A. When another mutation is discovered among ancestors then it is called mutation B. Once the alphabet was used up, letter and number combination have been used.
Genetic Adam belongs to the haplogroup A. Mutation (SNP) also called SNP marker described as M91 identifies haplogroup A. The first non-African progenitor called Eurasian Adam belongs to CF haplogroup, and its mutation is M168.
Haplogroup BT is around 55 thousand years old, CF is around 31-55 thousand years old, DE is around 50 thousand years old, IJK around 45 thousand years old, and NO, is around 35-40 thousands years old.
The International Society of Genetic Genealogy (ISOGG) ISSOG presents a genetic tree created with several haplogroups and related mutations. (8)
Below is located tree of haplogroup R created from Family Tree DNA and ISOGG data.
24.7 Where did we come from?
Such a question is asked often. Today genealogical studies can be aided by genetics. Usually genealogical studies encompass some to several generations and end because of lack of sources. So, here we have two limits: one is the time limit and another, is the limit of tools used by genealogy. The use of genetics opens new horizons to the researcher, and brings us closer to answer this question. Soon we will be able to know the migration and the relationship between people of all continents including Europe during first millennium AD.
Scientists can prove that all people are related, so we all have thousands of genetic ancestors. The method of statistical evaluation of distance in time to most recent common ancestor (RMCA) is taken from anthropological studies. Such a distance depends on test results and on the type of method (amount of tested markers). Test results of two individuals represent a level of relationship: more common markers stands for closer relationship. As the distance to RMCA decreases with increase of the number of same markers, it is advised to do a test with larger amount of markers. Typically tests are done at four levels: for 12, 25, 37, and 67 markers.
24.8 8. First genetic
studies, and Genographic Project.
In US genetics were applied to genealogy as early as the 1990s. Research began with the families of Humprey, Rutledge, Manley and Mumma. One of the first DNA database was complied by Dr. Scott Woodward and attached to portal "Ancestry.com". (9) In some of these sites, authors attempt to establish migration of ancestors based on early mutation classification.
National Geographic, IBM, Spencer Wells and the Waitt Family Foundation created a database called "Genographic Project" to study genetic anthropology that aims to map historical human migration patterns by collecting and analyzing DNA samples from hundreds of thousands of people from around the world. The Genographic Project is a privately-funded, not-for-profit organization. The project's public participation kits are processed by Family Tree DNA (FTDNA). The success of this undertaking was proven, and as of April 2011 more than 400,000 people had bought a test kit.
24.9 Test results for 12 STR markers test (2012)
Results of the 12 marker test can be useful for related individuals with the same surname. In the case of related participants (the same surname) of 12 marker method, when all markers are identical, there is 95% probability that the distance to the closest common ancestor is no greater then 27 generations, and at 99.5% - no greater then 50 generations.
A generation is counted as 25 years for the period before early medieval, and 30 years between present and early medieval. (10) The calculation (50x30=1500),(2010-~1500=~510AD) does not bring accurate results. The comparison of author's test results with 50 thousand database results brought identical results with 128 individuals, who describe their ethnicity as Poles, Germans, Scotts, Irish, Russians, English, Czech, Ukrainians, Norwegian and Bulgarian.
Base on above shown calculation, the 99.5% probability and 50 generations brings the common ancestor to the time of of expansion of Slavic people, when in Central Europe existed Slavic and Germanic tribes, and prospered Franks and Awars statehoods.
As seen in the attached table, the 12 markers method is not useful for genealogist.
Below presented are results of 12 marker test for 32 people with identical STR markers.
24.10 Test results for 25 and 37 STR markers
In case of related participants (the same surname) of 25 marker method, when all markers are identical, there is 95% probability that the distance to the closest common ancestor is no greater then 17 generations, and at 99.5% - no greater then 32 generations (32x30=960),(2010-~960=~1050AD). The results of 24 markers test are yet not useful (2010). Colors indicate differences in markers.
In the case of related participants (the same surname) of 37 marker method, when all markers are identical, there is 50% probability that the distance to the closest common ancestor is no greater then 2 generations. At 95% probability the distance is no greater then 7 generations, and at 99.5% - no greater then 14 generations (14x30=420)(2010-~420=~1590AD.
24.11 Test results for 67 STR markers
For results of the 67 markers test, the relation is proven if a minimum of 64 markers are identical.
Despite foud in literature thought that Polish noble clan members were not related by blood, I bring a thesis that the Janina clan members in early Middle Ages were genetically identical. To proof or disproof such idea, I invite all males with last name of Gulinski, Kaszowski and Bidzinski, as well as all male descendants of Janina clan members to participate in YDNA testing. Test results help ethnogenesis efforts, in genealogical research, and are useless for other applications of genetics. Testing facilities send results to the participant only and assure full confidentiality. Participant can compare his results to data kept in databases that are used for research and comparison, or can upload results to following databases.YDNA Ysearch Database
Definitions and notes
Literature and sources
(1) P.C. Turner, A.G. Mc
Lennon, A.D. Bates, M.R.H. White, Molecular Biology,
PWN, Warsaw 1996
(2) Pearson, H (2006). "Genetics: what is a gene?". Nature 441
(3) Sawyer, SA; Parsch, J; Zhang, Z; Hartl, DL (2007). "Prevalence of positive selection among nearly neutral amino acid replacements in Drosophila.". Proceedings of the National Academy of Sciences of the United States of America 104
(4) Feliks Jaroszyk, Biophysics, PZWL, Warsaw 2001
(5) see Paternal mtDNA on this http://en.wikipedia.org/wiki/Paternal_mtDNA_transmission
(6) Genographic Project, National Geographic http://genographic.nationalgeographic.com/geneographic.html
(7) Internet Cyclopedia PWN, http://encyklopedia.wp.pl
(8) International Society of Genetic Genealogy http://www.isogg.org
(9) Genetic Genealogy at http://www. Ancestry.com
(10) Family Tree DNA at http://www.familytreedna.com/