Human genetics in the context of Population genetics

Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics.

In contrast, the study of typically non-medical phenotypes such as the genetics of eye color would be considered part of human genetics, but not necessarily relevant to medical genetics (except in situations such as albinism). Genetic medicine is a newer term for medical genetics and incorporates areas such as gene therapy, personalized medicine, and the rapidly emerging new medical specialty, predictive medicine.

Human biology is an interdisciplinary area of academic study that examines humans through the influences and interplay of many diverse fields such as genetics, evolution, physiology, anatomy, epidemiology, anthropology, ecology, nutrition, population genetics, and sociocultural influences. It is closely related to the biomedical sciences, biological anthropology and other biological fields tying in various aspects of human functionality. It wasn't until the 20th century when biogerontologist, Raymond Pearl, founder of the journal Human Biology, phrased the term "human biology" in a way to describe a separate subsection apart from biology.

It is also a portmanteau term that describes all biological aspects of the human body, typically using the human body as a type organism for Mammalia, and in that context it is the basis for many undergraduate University degrees and modules.

The Royal Anthropological Institute of Great Britain and Ireland (RAI) is a long-established anthropological organisation, and Learned Society, with a global membership. Its remit includes all the component fields of anthropology, such as biological anthropology, evolutionary anthropology, social anthropology, cultural anthropology, visual anthropology and medical anthropology, as well as sub-specialisms within these, and interests shared with neighbouring disciplines such as human genetics, archaeology and linguistics. It seeks to combine a tradition of scholarship with services to anthropologists, including students.

The RAI promotes the public understanding of anthropology, as well as the contribution anthropology can make to public affairs and social issues. It includes within its constituency not only academic anthropologists, but also those with a general interest in the subject, and those trained in anthropology who work in other fields.

Human Biology is a peer reviewed scientific journal, currently published by Wayne State University Press. The journal was established in 1929 by Raymond Pearl and is the official publication of the American Association of Anthropological Genetics. The focus of the journal is human genetics, covering topics from human population genetics, evolutionary and genetic demography and quantitative genetics. It also covers ancient DNA studies, evolutionary biological anthropology, and research exploring biological diversity expressed in terms of adaptation. The journal also publishes interdisciplinary research linking biological and cultural diversity from evidence such sources as archaeology, ethnography and cultural anthropology studies, and more. As of February 14, 2020, the journal is on Volume 90, Issue 4. The journal's current editor is Ripan S. Malhi (University of Illinois Urbana-Champaign).

Caucasus hunter-gatherer (CHG), also called Satsurblia cluster, is an anatomically modern human genetic lineage, first identified in a 2015 study, based on the population genetics of several modern Western Eurasian (European, Caucasian and Near Eastern) populations.

It represents an ancestry maximised in some Upper Paleolithic and Mesolithic hunter-gatherer groups in the Caucasus. These groups are also very closely related to Mesolithic hunter-gatherers and Neolithic farmers and pastoralists in the Iranian Plateau (Iranian hunter-gatherer cluster), who are sometimes included within the CHG group. Ancestry that is closely related to CHG-Iranian hunter gatherers and farmers is also known from further east, including from the Bactria–Margiana Archaeological Complex and the Harappan/Indus Valley Civilisation. Caucasus hunter-gatherers and Eastern hunter-gatherers are ancestral in roughly equal proportions to the Western Steppe Herders (WSH), who were widely spread across Europe and Asia beginning during the Chalcolithic.

In human genetics, a human Y-chromosome DNA haplogroup is a haplogroup defined by specific mutations in the non-recombining portions of DNA on the male-specific Y chromosome (Y-DNA). Individuals within a haplogroup share similar numbers of short tandem repeats (STRs) and single-nucleotide polymorphisms (SNPs). The Y-chromosome accumulates approximately two mutations per generation, and Y-DNA haplogroups represent significant branches of the Y-chromosome phylogenetic tree, each characterized by hundreds or even thousands of unique mutations.

The Y-chromosomal most recent common ancestor (Y-MRCA), often referred to as Y-chromosomal Adam, is the most recent common ancestor from whom all currently living humans are descended patrilineally. Y-chromosomal Adam is estimated to have lived around 236,000 years ago in Africa. By examining other population bottlenecks, most Eurasian men trace their descent from a man who lived in Africa approximately 69,000 years ago (Haplogroup CT). Although Southeast Asia has been proposed as the origin for all non-African human Y chromosomes, this hypothesis is considered unlikely. Other bottlenecks occurred roughly 50,000 and 5,000 years ago, and the majority of Eurasian men are believed to be descended from four ancestors who lived 50,000 years ago, all of whom were descendants of an African lineage (Haplogroup E-M168).

Statistical genetics is a scientific field concerned with the development and application of statistical methods for drawing inferences from genetic data. The term is most commonly used in the context of human genetics. Research in statistical genetics generally involves developing theory or methodology to support research in one of three related areas:

• population genetics - Study of evolutionary processes affecting genetic variation between organisms
• genetic epidemiology - Studying effects of genes on diseases
• quantitative genetics - Studying the effects of genes on 'normal' phenotypes

Statistical geneticists tend to collaborate closely with geneticists, molecular biologists, clinicians and bioinformaticians. Statistical genetics is a type of computational biology.

The Annals of Human Genetics is a bimonthly peer-reviewed scientific journal covering human genetics. It was established in 1925 by Karl Pearson as the Annals of Eugenics, with as subtitle, Darwin's epigram "I have no Faith in anything short of actual measurement and the rule of three". The journal obtained its current name in 1954 to reflect changing perceptions on eugenics.

Nasopharyngeal carcinoma (NPC), or nasopharynx cancer, is the most common cancer originating in the nasopharynx, most commonly in the postero-lateral nasopharynx or pharyngeal recess (fossa of Rosenmüller), accounting for 50% of cases. NPC occurs in children and adults. NPC differs significantly from other cancers of the head and neck in its occurrence, causes, clinical behavior, and treatment. It is vastly more common in certain regions of East Asia and Africa than elsewhere, with viral, dietary and genetic factors implicated in its causation. It is most common in males. It is a squamous cell carcinoma of an undifferentiated type. Squamous epithelial cells are a flat type of cell found in the skin and the membranes that line some body cavities. Undifferentiated cells are cells that do not have their mature features or functions.

Preimplantation genetic diagnosis (PGD or PIGD) is the genetic profiling of embryos prior to implantation (as a form of embryo profiling), and sometimes even of oocytes prior to fertilization. PGD is considered in a similar fashion to prenatal diagnosis. When used to screen for a specific genetic disease, its main advantage is that it avoids selective abortion, as the method makes it highly likely that the baby will be free of the disease under consideration. PGD thus is an adjunct to assisted reproductive technology, and requires in vitro fertilization (IVF) to obtain oocytes or embryos for evaluation. Embryos are generally obtained through blastomere or blastocyst biopsy. The latter technique has proved to be less deleterious for the embryo, therefore it is advisable to perform the biopsy around day 5 or 6 of development.

The world's first PGD was performed by Handyside, Kontogianni and Winston at the Hammersmith Hospital in London. "Female embryos were selectively transferred in five couples at risk of X-linked disease, resulting in two twin and one singleton pregnancy."

Since 1998, Northern Ireland has devolved government within the United Kingdom. The government and Parliament of the United Kingdom are responsible for reserved and excepted matters. Reserved matters are a list of policy areas (such as civil aviation, units of measurement, and human genetics), which the Westminster Parliament may devolve to the Northern Ireland Assembly at some time in future. Excepted matters (such as international relations, taxation and elections) are never expected to be considered for devolution. On all other matters, the Northern Ireland Executive together with the 90-member Northern Ireland Assembly may legislate and govern for Northern Ireland. Additionally, devolution in Northern Ireland is dependent upon participation by members of the Northern Ireland Executive in the North/South Ministerial Council, which co-ordinates areas of co-operation (such as agriculture, education and health) between Northern Ireland and the Republic of Ireland.

Elections to the Northern Ireland Assembly are by single transferable vote with five representatives (Members of the Legislative Assembly, MLAs) elected from 18 parliamentary constituencies. Eighteen representatives to the lower house of the British parliament (Members of Parliament, MPs) are elected from the same constituencies using the first-past-the-post system. However, not all of these take their seats. The seven Sinn Féin MPs refuse to take the required oath to serve the British monarch. In addition, the upper house of the UK's parliament, the House of Lords, currently has some 25 appointed members from Northern Ireland.

In human genetics, the Y-chromosomal Adam (more technically known as the Y-chromosomal most recent common ancestor, shortened to Y-MRCA), is the patrilineal most recent common ancestor (MRCA) from whom all currently living humans are descended. He is the most recent male from whom all living humans are descended through an unbroken line of their male ancestors. The term Y-MRCA reflects the fact that the Y chromosomes of all currently living human males are directly derived from the Y chromosome of this remote ancestor.

The analogous concept of the matrilineal most recent common ancestor is known as "Mitochondrial Eve" (mt-MRCA, named for the matrilineal transmission of mtDNA), the most recent woman from whom all living humans are descended matrilineally. As with "Mitochondrial Eve", the title of "Y-chromosomal Adam" is not permanently fixed to a single individual, but can advance over the course of human history as paternal lineages become extinct.

In human genetics, Haplogroup J-M172 or J2 is a Y-chromosome haplogroup which is a subclade (branch) of haplogroup J-M304. Haplogroup J-M172 is common in modern populations in Western Asia, Central Asia, South Asia, Southern Europe, Northwestern Iran and North Africa. It is thought that J-M172 may have originated in the Caucasus, Anatolia, Mesopotamia and/or present-day Western Iran.

It is further divided into two complementary clades, J-M410 and J-M12 (M12, M102, M221, M314).