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Life and health

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Genetic linkage

Genetic linkage: tendency of genes close together on a chromosome to be inherited together, violating independent assortment. Discovered by Bateson, Saunders, and Punnett (1905); explained by Morgan; mapped by Sturtevant in centimorgans via recombination frequency.

Genetic linkage analysis

Genetic linkage analysis, or linkage analysis, tests whether a trait and genetic markers are inherited together in families, mapping genes through LOD scores that estimate recombination between marker and disease locus.

Genetic marker

Genetic marker: a DNA sequence with a known chromosomal location, also called a molecular marker (RFLP, STR/microsatellite, SNP), used as a landmark to track inheritance of nearby genes in mapping, forensics, and population genetics.

Genetic Polymorphism

Genetic polymorphism: two or more common variant forms of a DNA sequence among individuals, typically with the rare allele at 1% or more frequency; includes SNPs, indels, and CNVs, maintained by mutation and balancing selection.

Genetic Profile

Genetic profile (DNA profile, DNA fingerprint): a set of genetic-marker measurements identifying a person. Invented by Alec Jeffreys in 1984; STR-based for CODIS, SNP-based for forensic genetic genealogy.

Genetic recombination

Genetic recombination, also called homologous recombination, is the production of new DNA arrangements via crossing over, gene conversion, and related mechanisms, initiated by Spo11-made double-strand breaks and RecA-mediated strand exchange.

Genetic screen

A genetic screen systematically creates or introduces mutations across many genes in cells or organisms and identifies which genes affect a chosen phenotype, now often by pooled CRISPR sequencing.

Genetic studies on Turkish people

Genetic studies on Turkish people: population-genetics research showing extensive Balkan, Caucasus, Middle Eastern, and European admixture, a below-9% Central Asian paternal contribution, the Turkish Variome of 3,362 genomes, and medical uses such as MEFV prevalence.

Genetic susceptibility to coronary artery disease

Genetic susceptibility to coronary artery disease is inherited heart-attack risk from many common DNA variants, each with a small effect, distinct from rare single-gene diseases like familial hypercholesterolaemia.

Genetic testing

Genetic testing identifies changes in genes, chromosomes, or proteins to confirm, rule out, or predict genetic conditions. Over 77,000 tests exist; results use blood or spit samples, involve counseling, and are protected in the US by GINA.

Genetic testing and counseling in polycystic kidney disease

Genetic testing in polycystic kidney disease sequences DNA, mainly PKD1 and PKD2, to resolve uncertain diagnoses, refine prognosis, and enable predictive and prenatal testing of relatives.

Genetic Transformation

Genetic transformation: uptake of naked foreign DNA by a cell and its genomic integration; discovered by Griffith in pneumococcus, identified as DNA-mediated by Avery in 1944, and now a core plant and microbial engineering method.

Genetic variation

Genetic variation: differences in DNA sequence among individuals, from SNPs to copy number variants; arises from mutation and recombination; about 85% of human variation is within populations; cataloged in dbSNP and gnomAD.

Genetically encoded calcium indicators

Genetically encoded calcium indicators (GECIs) are engineered proteins, expressed from transferred genes, that change fluorescence upon binding calcium ions, allowing calcium dynamics and neural activity to be imaged in living cells and organisms.

Genetically encoded voltage indicators

Genetically encoded voltage indicators (GEVIs) are engineered fluorescent protein sensors that report membrane voltage optically, allowing noninvasive, cell-type-specific recording with millisecond resolution, mostly in neurons.

Genetically modified crops

Genetically modified crops, also called GM or genetically engineered crops, are plants altered by recombinant DNA or gene editing, mainly for herbicide tolerance and insect resistance; over 90 percent of US corn, cotton, and soybeans are GE, grown in 44 countries.

Genetically modified food

Genetically modified food, also called GM food or genetically engineered food, is food made from organisms whose DNA has been altered through genetic engineering, starting with the FLAVR SAVR tomato in 1994.

Genetically modified food controversies

Genetically modified food controversies: disputes over GMO foods, defined by WHO as DNA altered unnaturally. Covers safety consensus (2016 NASEM, ~900 publications), 2020 Pew polling, labeling, economics, and environmental concerns.

Genetically modified food in the European Union

Genetically modified food in the European Union, also called GM food or feed, is regulated under Directive 2001/18/EC and Regulation 1829/2003 with EFSA risk assessment, 0.9% labelling threshold, MON810 the only cultivated GM crop, and Regulation (EU) 2026/1388 exempting NGT-1 gene-edited plants from GMO rules from mid-2028.

Genetically modified maize

Genetically modified maize (GM corn, Bt maize, herbicide-tolerant maize) is Zea mays engineered for herbicide tolerance, Bt insect resistance, or stacked traits; over 90 percent of U.S. corn is GE since 1996.

Genetically modified organism

A genetically modified organism (GMO) is a plant, animal, or microorganism whose DNA has been altered through laboratory techniques. The term commonly describes genetically engineered foods.

Genetically modified soybean

Genetically modified soybean (Glycine max), first commercialized as Roundup Ready in 1996, is engineered mainly for herbicide tolerance; over 90 percent of U.S. soybean acreage is GE, used mostly for animal feed and oil.

Genetically modified tomato

Genetically modified tomato: tomato altered by genetic engineering or CRISPR. Includes the 1994 FLAVR SAVR (first GM whole food, Calgene), Japan's GABA-enriched Sicilian Rouge, and the snapdragon-gene purple tomato.

Genetically modified tree

A genetically modified tree has had its genome changed through genetic engineering. Poplar was the first modified tree genus in 1986, but few have been commercialized.

Genetically-determined skin fragility

Genetically-determined skin fragility: inherited disorders, prototypically epidermolysis bullosa (EB, also mechanobullous disease), in which structural protein defects make skin blister, peel or tear from minor trauma; four EB types, at least 21 genes, and first approved therapies since 2022.

Genetics

Genetics, also called genetic science, is the branch of biology that studies heredity, how traits pass from parents to offspring through genes and DNA, reaching from molecular biology to medicine.

Genetics and archaeogenetics of South Asia

Genetics and archaeogenetics of South Asia: study of subcontinental ancestry via modern and ancient DNA; settlement 40,000-70,000 years ago, ANI/ASI components, Iranian farmer and Steppe mixture, and strong caste endogamy with founder events.

Genetics and pathogenesis of Duchenne muscular dystrophy

Duchenne muscular dystrophy results from mutations in the DMD gene, the largest known human gene, which abolish dystrophin and make muscle-fiber membranes fragile under contraction.

Genetics of amyotrophic lateral sclerosis

Genetics of ALS: 5–10% familial, 90–95% sporadic; C9orf72, SOD1, TARDBP, FUS are major genes; 2023 guidelines recommend universal testing; tofersen treats SOD1-ALS.

Genetics of cardiomyopathy

The genetics of cardiomyopathy concerns inherited gene variants that cause heart muscle disease, mainly sarcomere genes like MYBPC3 and MYH7 in hypertrophic cardiomyopathy, usually autosomal dominant with incomplete penetrance.