Founder Effect
A phenomenon that is observed when a small subgroup of a larger POPULATION establishes itself as a separate and isolated entity. The subgroup's GENE POOL carries only a fraction of the genetic diversity of the parental population resulting in an increased frequency of certain diseases in the subgroup, especially those diseases known to be autosomal recessive.
Haplotypes
Pedigree
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
Jews
An ethnic group with historical ties to the land of ISRAEL and the religion of JUDAISM.
Microsatellite Repeats
Africa, Northern
Gypsies
Ethnic group originating in India and entering Europe in the 14th or 15th century.
Mutation
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
Indians, Central American
Genetics, Population
The discipline studying genetic composition of populations and effects of factors such as GENETIC SELECTION, population size, MUTATION, migration, and GENETIC DRIFT on the frequencies of various GENOTYPES and PHENOTYPES using a variety of GENETIC TECHNIQUES.
National Socialism
The doctrines and policies of the Nazis or the National Social German Workers party, which ruled Germany under Adolf Hitler from 1933-1945. These doctrines and policies included racist nationalism, expansionism, and state control of the economy. (from Columbia Encyclopedia, 6th ed. and American Heritage College Dictionary, 3d ed.)
Gene Frequency
The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.
Geography
Genes, Recessive
Genes that influence the PHENOTYPE only in the homozygous state.
Newfoundland and Labrador
Keratoderma, Palmoplantar
Linkage Disequilibrium
Nonrandom association of linked genes. This is the tendency of the alleles of two separate but already linked loci to be found together more frequently than would be expected by chance alone.
Dermatitis, Exfoliative
The widespread involvement of the skin by a scaly, erythematous dermatitis occurring either as a secondary or reactive process to an underlying cutaneous disorder (e.g., atopic dermatitis, psoriasis, etc.), or as a primary or idiopathic disease. It is often associated with the loss of hair and nails, hyperkeratosis of the palms and soles, and pruritus. (From Dorland, 27th ed)
Indians, South American
Genetic Structures
Alleles
Australasia
Nontherapeutic Human Experimentation
Human experimentation that is not intended to benefit the subjects on whom it is performed. Phase I drug studies (CLINICAL TRIALS, PHASE I AS TOPIC) and research involving healthy volunteers are examples of nontherapeutic human experimentation.
Homozygote
An individual in which both alleles at a given locus are identical.
Genotype
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
DNA, Mitochondrial
Gene Flow
The change in gene frequency in a population due to migration of gametes or individuals (ANIMAL MIGRATION) across population barriers. In contrast, in GENETIC DRIFT the cause of gene frequency changes are not a result of population or gamete movement.
Heterozygote
An individual having different alleles at one or more loci regarding a specific character.
Arabs
Members of a Semitic people inhabiting the Arabian peninsula or other countries of the Middle East and North Africa. The term may be used with reference to ancient, medieval, or modern ethnic or cultural groups. (From Random House Unabridged Dictionary, 2d ed)
Chromosome Mapping
Chromosomes, Human, Y
Phenotype
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
Genetic Markers
Genetic Linkage
Genetic Testing
Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.
Tunisia
A country in northern Africa between ALGERIA and LIBYA. Its capital is Tunis.
Genetic Heterogeneity
The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992)
Base Sequence
Penetrance
The percent frequency with which a dominant or homozygous recessive gene or gene combination manifests itself in the phenotype of the carriers. (From Glossary of Genetics, 5th ed)
Molecular Sequence Data
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
Polymorphism, Genetic
The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.
France
Exons
Chromosomes, Human, Pair 2
Mediterranean Region
Introduced Species
Genes, BRCA1
A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear protein that is a component of DNA repair pathways.
Models, Genetic
Europe
Mutation, Missense
A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)
Genetic Speciation
The splitting of an ancestral species into daughter species that coexist in time (King, Dictionary of Genetics, 6th ed). Causal factors may include geographic isolation, HABITAT geometry, migration, REPRODUCTIVE ISOLATION, random GENETIC DRIFT and MUTATION.
Point Mutation
A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.
Germ-Line Mutation
BRCA2 Protein
A large, nuclear protein, encoded by the BRCA2 gene (GENE, BRCA2). Mutations in this gene predispose humans to breast and ovarian cancer. The BRCA2 protein is an essential component of DNA repair pathways, suppressing the formation of gross chromosomal rearrangements. (from Genes Dev. 2000;14(11):1400-6)
Polymorphism, Single-Stranded Conformational
Variation in a population's DNA sequence that is detected by determining alterations in the conformation of denatured DNA fragments. Denatured DNA fragments are allowed to renature under conditions that prevent the formation of double-stranded DNA and allow secondary structure to form in single stranded fragments. These fragments are then run through polyacrylamide gels to detect variations in the secondary structure that is manifested as an alteration in migration through the gels.
Family Health
Spinocerebellar Degenerations
Biological Evolution
Age of Onset
Finland
Italy
I'm sorry for any confusion, but "Italy" is not a medical term or concept, it's a country located in Southern Europe. If you have any questions related to medical topics, I'd be happy to help with those!
Frameshift Mutation
A type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. These mutations may be induced by certain types of MUTAGENS or may occur spontaneously.
Evolution, Molecular
Emigration and Immigration
Spain
Parliamentary democracy located between France on the northeast and Portugual on the west and bordered by the Atlantic Ocean and the Mediterranean Sea.
Population Dynamics
Sequence Analysis, DNA
Africa
I'm afraid there seems to be a misunderstanding - "Africa" is not a medical term and does not have a medical definition. Africa is the world's second-largest and second-most populous continent, consisting of 54 countries with diverse cultures, peoples, languages, and landscapes. If you have any questions related to medical topics or definitions, I would be happy to help answer those for you!
Polymorphism, Single Nucleotide
Polymorphism, Restriction Fragment Length
Codon, Nonsense
An amino acid-specifying codon that has been converted to a stop codon (CODON, TERMINATOR) by mutation. Its occurance is abnormal causing premature termination of protein translation and results in production of truncated and non-functional proteins. A nonsense mutation is one that converts an amino acid-specific codon to a stop codon.
Israel
Quebec
A province of eastern Canada. Its capital is Quebec. The region belonged to France from 1627 to 1763 when it was lost to the British. The name is from the Algonquian quilibek meaning the place where waters narrow, referring to the gradually narrowing channel of the St. Lawrence or to the narrows of the river at Cape Diamond. (From Webster's New Geographical Dictionary, 1988, p993 & Room, Brewer's Dictionary of Names, 1992, p440)
Genetic Predisposition to Disease
Selection, Genetic
North America
While there isn't a specific medical definition for "North America," I can provide a geographical definition that is often used in public health and medical contexts: North America is the third largest continent by area, encompassing 23 independent states, including the United States, Canada, and Mexico, which are home to diverse populations, cultures, and ecosystems, and share common health-related challenges such as obesity, diabetes, and healthcare access disparities.
Polymerase Chain Reaction
In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.
Genes, Dominant
Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.