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The polymerase chain reaction (PCR) is a method widely used to rapidly make millions to billions of copies of a specific DNA sample, allowing scientists to take a very small sample of DNA and amplify it to a large enough amount to study in detail. PCR was invented in 1983 by the American biochemist Kary Mullis at Cetus Corporation; Mullis and biochemist Michael Smith, who had developed other essential ways of manipulating DNA, were jointly awarded the Nobel Prize in Chemistry in 1993.
In molecular biology, restriction fragment length polymorphism (RFLP) is a technique that exploits variations in homologous DNA sequences, known as polymorphisms, in order to distinguish individuals, populations, or species or to pinpoint the locations of genes within a sequence. The term may refer to a polymorphism itself, as detected through the differing locations of restriction enzyme sites, or to a related laboratory technique by which such differences can be illustrated. In RFLP analysis, a DNA sample is digested into fragments by one or more restriction enzymes, and the resulting restriction fragments are then separated by gel electrophoresis according to their size.
A microsatellite is a tract of repetitive DNA in which certain DNA motifs are repeated, typically 5–50 times. Microsatellites occur at thousands of locations within an organism's genome. They have a higher mutation rate than other areas of DNA leading to high genetic diversity. Microsatellites are often referred to as short tandem repeats (STRs) by forensic geneticists and in genetic genealogy, or as simple sequence repeats (SSRs) by plant geneticists.
A haplotype is a group of alleles in an organism that are inherited together from a single parent.
A sequence-tagged site is a short DNA sequence that has a single occurrence in the genome and whose location and base sequence are known.
In biology and genetic genealogy, the most recent common ancestor (MRCA), also known as the last common ancestor (LCA) or concestor, of a set of organisms is the most recent individual from which all the organisms of the set are descended. The term is also used in reference to the ancestry of groups of genes (haplotypes) rather than organisms.
Researchers have investigated the relationship between race and genetics as part of efforts to understand how biology may or may not contribute to human racial categorization.
Genotyping is the process of determining differences in the genetic make-up (genotype) of an individual by examining the individual's DNA sequence using biological assays and comparing it to another individual's sequence or a reference sequence. It reveals the alleles an individual has inherited from their parents. Traditionally genotyping is the use of DNA sequences to define biological populations by use of molecular tools. It does not usually involve defining the genes of an individual.
Noah Aubrey Rosenberg is a geneticist working in evolutionary biology, human genetics, and population genetics, now Professor at Stanford University. His research is concerned with quantifiable changes in the human genome over time, and he is famous for his studies of human genetic clustering. He is the editor-in-chief of Theoretical Population Biology.
Human genetic variation is the genetic differences in and among populations. There may be multiple variants of any given gene in the human population (alleles), a situation called polymorphism.
The Breakthrough of the Year is an annual award for the most significant development in scientific research made by the AAAS journal Science, an academic journal covering all branches of science. Originating in 1989 as the Molecule of the Year, and inspired by Time's Man of the Year, it was renamed the Breakthrough of the Year in 1996.
The Trail Creek Caves are a group of twelve caves found within the Bering Land Bridge National Preserve on the Seward Peninsula of the U.S. state of Alaska. This is a significant archeological site due to the discovery of several artifacts of ancient hunters. These included stone tools and bone fragments dated to 8,500 years or earlier. The caves were discovered in 1928 by Taylor Moto and Alfred Karmun, locals from Deering, Alaska. Geologist David Hopkins tested the site in 1948. This location was first excavated in from 1949-1950 by Danish archeologist Helge Larsen. The caves are located along Trail Creek 65°47′28″N163°24′58″W near its mouth at Cottonwood Creek in the Northwest Arctic Borough.
An allele-specific oligonucleotide (ASO) is a short piece of synthetic DNA complementary to the sequence of a variable target DNA. It acts as a probe for the presence of the target in a Southern blot assay or, more commonly, in the simpler Dot blot assay. It is a common tool used in genetic testing, forensics, and Molecular Biology research.
Multiple displacement amplification (MDA) is a DNA amplification technique. This method can rapidly amplify minute amounts of DNA samples to a reasonable quantity for genomic analysis. The reaction starts by annealing random hexamer primers to the template: DNA synthesis is carried out by a high fidelity enzyme, preferentially Φ29 DNA polymerase. Compared with conventional PCR amplification techniques, MDA does not employ sequence-specific primers but amplifies all DNA, generates larger-sized products with a lower error frequency, and works at a constant temperature. MDA has been actively used in whole genome amplification (WGA) and is a promising method for application to single cell genome sequencing and sequencing-based genetic studies.
Vindija Cave is an archaeological site associated with Neanderthals and modern humans, located in the municipality of Donja Voća, northern Croatia. Three of these Neanderthals were selected as the primary sources for the first draft sequence of the Neanderthal genome project.
Jonathan Karl Pritchard is an English-born professor of genetics at Stanford University, best known for his development of the STRUCTURE algorithm for studying population structure and his work on human genetic variation and evolution. His research interests lie in the study of human evolution, in particular in understanding the association between genetic variation among human individuals and human traits.
The Upward Sun River site, or Xaasaa Na’, is a Late Pleistocene archaeological site associated with the Paleo-Arctic tradition, located in the Tanana River Valley, Alaska. Dated to around 11,500 BP, Upward Sun River is the site of the oldest human remains discovered on the American side of Beringia. The site was first discovered in 2006.
Kenneth Kay Kidd is an American human geneticist and emeritus professor of genetics at Yale University School of Medicine. He is known for his work on the role of genetics in disorders such as manic depression and schizophrenia, on human genetic variation and its relationship to geography, and the Out of Africa theory of human evolution. He also helped discover the DRD4-7R gene that has been linked to exploratory behaviour.
Haplogroup E-M329 or E1b1a2 is a haplogroup, a group of similar haplotypes that share a common ancestor with a single-nucleotide polymorphism mutation. It is defined by the SNP mutation M329. The majority of the cases observed have been found in East Africa. It has been found in ancient DNA isolated from a 4,500 year old Ethiopian fossil called Mota. This haplogroup is frequent in Southwestern Ethiopia, especially among Omotic-speaking populations. Semino et al. (2004) found 2 Ethiopian Oromo in a study of >2400 individuals, including 78 Oromo. Cadenas et al. (2007) found 1 case in Qatar, out of 72 people tested there in that study.
Human genetic clustering refers to patterns of relative genetic similarity among human individuals and populations, as well as the wide range of scientific and statistical methods used to study this aspect of human genetic variation.
References
- ↑ King, M.-C. (2002-12-20). "HUMAN GENETICS: Mapping Human History". Science. American Association for the Advancement of Science (AAAS). 298 (5602): 2342–2343. doi:10.1126/science.1080373. ISSN 0036-8075. PMID 12493903. S2CID 84117619.
- 1 2 Rosenberg, N. A. (2002-12-20). "Genetic Structure of Human Populations". Science. American Association for the Advancement of Science (AAAS). 298 (5602): 2381–2385. Bibcode:2002Sci...298.2381R. doi:10.1126/science.1078311. ISSN 0036-8075. PMID 12493913. S2CID 8127224.
- ↑ Wade, Nicholas (2006). Before the Dawn: Recovering the Lost History of Our Ancestors. Penguin Press. ISBN 978-1-59420-079-3