Lod Score
Genetic Linkage
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.
Chromosome Mapping
Genetic Markers
Genes, Dominant
Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.
Chromosomes, Human, Pair 2
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
Microsatellite Repeats
Chromosomes, Human, Pair 1
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
Genes, Recessive
Genes that influence the PHENOTYPE only in the homozygous state.
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)
Haplotypes
Genome, Human
Chromosomes, Human, Pair 6
Chromosomes, Human, Pair 12
Chromosomes, Human, Pair 16
Chromosomes, Human, Pair 19
Chromosomes, Human, Pair 7
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)
Genotype
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
Nuclear Family
A family composed of spouses and their children.
Chromosomes, Human, Pair 10
Chromosomes, Human, Pair 4
Family Health
Chromosomes, Human, Pair 5
One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).
Chromosomes, Human, Pair 20
Quantitative Trait, Heritable
Genetic Predisposition to Disease
Chromosomes, Human, Pair 3
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
Phenotype
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
Chromosomes, Human, Pair 13
Chromosomes, Human, Pair 17
X Chromosome
Chromosomes, Human, Pair 9
Models, Genetic
Chromosomes, Human, Pair 11
Age of Onset
Chromosomes, Human, Pair 15
Cataract
Partial or complete opacity on or in the lens or capsule of one or both eyes, impairing vision or causing blindness. The many kinds of cataract are classified by their morphology (size, shape, location) or etiology (cause and time of occurrence). (Dorland, 27th ed)
Chromosomes, Human, Pair 8
Chromosomes, Human
Alleles
Matched-Pair Analysis
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.
Siblings
Chromosomes, Human, Pair 18
Chromosomes, Human, Pair 14
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.
Homozygote
An individual in which both alleles at a given locus are identical.
Recombination, Genetic
Likelihood Functions
Polymorphism, Single Nucleotide
Polymorphism, Restriction Fragment Length
Retinitis Pigmentosa
Iceland
I'm sorry for any confusion, but "Iceland" is a country located in Northern Europe, and it doesn't have a medical definition. If you're referring to a term in medicine that might be associated with Iceland, perhaps you're thinking of "Iceland syndrome," which is a medical condition named after the place where it was first described, not because it's unique to Iceland. It refers to a rare occurrence of unilateral lower limb edema (swelling) due to a deep vein thrombosis (blood clot) in the iliofemoral vein, often associated with malignancy.
Pakistan
Crosses, Genetic
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.
Gene Frequency
The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.
Multifactorial Inheritance
Abnormalities, Multiple
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.
Chromosomes, Human, Pair 22
Chromosomes, Mammalian
Genome-Wide Association Study
Genetic Diseases, Inborn
Reproducibility of Results
The statistical reproducibility of measurements (often in a clinical context), including the testing of instrumentation or techniques to obtain reproducible results. The concept includes reproducibility of physiological measurements, which may be used to develop rules to assess probability or prognosis, or response to a stimulus; reproducibility of occurrence of a condition; and reproducibility of experimental results.
Severity of Illness Index
Hearing Loss, Sensorineural
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.
Finland
I'm sorry for any confusion, but "Finland" is not a medical term and does not have a medical definition. It is a country located in Northern Europe, known officially as the Republic of Finland. If you have any questions related to medical topics or definitions, I would be happy to help with those!
Heterozygote
An individual having different alleles at one or more loci regarding a specific character.
DNA, Satellite
Highly repetitive DNA sequences found in HETEROCHROMATIN, mainly near centromeres. They are composed of simple sequences (very short) (see MINISATELLITE REPEATS) repeated in tandem many times to form large blocks of sequence. Additionally, following the accumulation of mutations, these blocks of repeats have been repeated in tandem themselves. The degree of repetition is on the order of 1000 to 10 million at each locus. Loci are few, usually one or two per chromosome. They were called satellites since in density gradients, they often sediment as distinct, satellite bands separate from the bulk of genomic DNA owing to a distinct BASE COMPOSITION.
Hand Deformities, Congenital
Neoplastic Syndromes, Hereditary
The condition of a pattern of malignancies within a family, but not every individual's necessarily having the same neoplasm. Characteristically the tumor tends to occur at an earlier than average age, individuals may have more than one primary tumor, the tumors may be multicentric, usually more than 25 percent of the individuals in direct lineal descent from the proband are affected, and the cancer predisposition in these families behaves as an autosomal dominant trait with about 60 percent penetrance.
Intellectual Disability
Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)
Charcot-Marie-Tooth Disease
A hereditary motor and sensory neuropathy transmitted most often as an autosomal dominant trait and characterized by progressive distal wasting and loss of reflexes in the muscles of the legs (and occasionally involving the arms). Onset is usually in the second to fourth decade of life. This condition has been divided into two subtypes, hereditary motor and sensory neuropathy (HMSN) types I and II. HMSN I is associated with abnormal nerve conduction velocities and nerve hypertrophy, features not seen in HMSN II. (Adams et al., Principles of Neurology, 6th ed, p1343)
Cohort Studies
Studies in which subsets of a defined population are identified. These groups may or may not be exposed to factors hypothesized to influence the probability of the occurrence of a particular disease or other outcome. Cohorts are defined populations which, as a whole, are followed in an attempt to determine distinguishing subgroup characteristics.
Software
Genetic Loci
Specific regions that are mapped within a GENOME. Genetic loci are usually identified with a shorthand notation that indicates the chromosome number and the position of a specific band along the P or Q arm of the chromosome where they are found. For example the locus 6p21 is found within band 21 of the P-arm of CHROMOSOME 6. Many well known genetic loci are also known by common names that are associated with a genetic function or HEREDITARY DISEASE.
Chromosomes, Human, Pair 21
Arabs
Eye Diseases, Hereditary
Chromosomes, Human, X
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.