The physical characteristics of the body, including the mode of performance of functions, the activity of metabolic processes, the manner and degree of reactions to stimuli, and power of resistance to the attack of pathogenic organisms.
The fundamental principles and laws adopted by an organization for the regulation and governing of its affairs.
Medical practice or discipline that is based on the knowledge, cultures, and beliefs of the people of KOREA.
Particular categories of body build, determined on the basis of certain physical characteristics. The three basic body types are ectomorph (thin physique), endomorph (rounded physique), and mesomorph (athletic physique).
The vital life force in the body, supposedly able to be regulated by acupuncture. It corresponds roughly to the Greek pneuma, the Latin spiritus, and the ancient Indian prana. The concept of life-breath or vital energy was formulated as an indication of the awareness of man, originally directed externally toward nature or society but later turned inward to the self or life within. (From Comparison between Concepts of Life-Breath in East and West, 15th International Symposium on the Comparative History of Medicine - East and West, August 26-September 3, 1990, Shizuoka, Japan, pp. ix-x)
Abnormal number or structure of the SEX CHROMOSOMES. Some sex chromosome aberrations are associated with SEX CHROMOSOME DISORDERS and SEX CHROMOSOME DISORDERS OF SEX DEVELOPMENT.
In Chinese philosophy and religion, two principles, one negative, dark, and feminine (yin) and one positive, bright, and masculine (yang), from whose interaction all things are produced and all things are dissolved. As a concept the two polar elements referred originally to the shady and sunny sides of a valley or a hill but it developed into the relationship of any contrasting pair: those specified above (female-male, etc.) as well as cold-hot, wet-dry, weak-strong, etc. It is not a distinct system of thought by itself but permeates Chinese life and thought. A balance of yin and yang is essential to health. A deficiency of either principle can manifest as disease. (Encyclopedia Americana)
Abnormal genetic constitution in males characterized by an extra Y chromosome.
The homologous chromosomes that are dissimilar in the heterogametic sex. There are the X CHROMOSOME, the Y CHROMOSOME, and the W, Z chromosomes (in animals in which the female is the heterogametic sex (the silkworm moth Bombyx mori, for example)). In such cases the W chromosome is the female-determining and the male is ZZ. (From King & Stansfield, A Dictionary of Genetics, 4th ed)
Mapping of the KARYOTYPE of a cell.
The traditional Hindu system of medicine which is based on customs, beliefs, and practices of the Hindu culture. Ayurveda means "the science of Life": veda - science, ayur - life.
The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.
A plant genus of the family POACEAE. The small pointed seeds are grown for hay in North America and western Europe and important as food in China and other Asian countries.
The male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans and in some other male-heterogametic species in which the homologue of the X chromosome has been retained.
The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.
Systematic physical exercise. This includes calisthenics, a system of light gymnastics for promoting strength and grace of carriage.
A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant.
A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic variants. Their karyotypes are of partial sex chromosome monosomy resulting from an absence or an abnormal second sex chromosome (X or Y). Karyotypes include 45,X/46,XX; 45,X/46,XX/47,XXX; 46,XXp-; 45,X/46,XY; 45,X/47,XYY; 46,XYpi; etc. The spectrum of phenotypes may range from phenotypic female to phenotypic male including variations in gonads and internal and external genitalia, depending on the ratio in each gonad of 45,X primordial germ cells to those with normal 46,XX or 46,XY constitution.
Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.
The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.
A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.).
A type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei.
The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.
Very long DNA molecules and associated proteins, HISTONES, and non-histone chromosomal proteins (CHROMOSOMAL PROTEINS, NON-HISTONE). Normally 46 chromosomes, including two sex chromosomes are found in the nucleus of human cells. They carry the hereditary information of the individual.
The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1).
In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of PLANTS.
The genetic process of crossbreeding between genetically dissimilar parents to produce a hybrid.
Validation of the SEX of an individual by inspection of the GONADS and/or by genetic tests.
The degree of replication of the chromosome set in the karyotype.
Staining of bands, or chromosome segments, allowing the precise identification of individual chromosomes or parts of chromosomes. Applications include the determination of chromosome rearrangements in malformation syndromes and cancer, the chemistry of chromosome segments, chromosome changes during evolution, and, in conjunction with cell hybridization studies, chromosome mapping.
The possession of a third chromosome of any one type in an otherwise diploid cell.
A type of CELL NUCLEUS division, occurring during maturation of the GERM CELLS. Two successive cell nucleus divisions following a single chromosome duplication (S PHASE) result in daughter cells with half the number of CHROMOSOMES as the parent cells.
Mature male germ cells derived from SPERMATIDS. As spermatids move toward the lumen of the SEMINIFEROUS TUBULES, they undergo extensive structural changes including the loss of cytoplasm, condensation of CHROMATIN into the SPERM HEAD, formation of the ACROSOME cap, the SPERM MIDPIECE and the SPERM TAIL that provides motility.
The mechanisms by which the SEX of an individual's GONADS are fixed.
The capital is Seoul. The country, established September 9, 1948, is located on the southern part of the Korean Peninsula. Its northern border is shared with the Democratic People's Republic of Korea.
The reproductive cells in multicellular organisms at various stages during GAMETOGENESIS.
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
Time period from 1901 through 2000 of the common era.
Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
The genetic complement of a plant (PLANTS) as represented in its DNA.
The chromosomal constitution of cells, in which each type of CHROMOSOME is represented once. Symbol: N.
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.
Deliberate breeding of two different individuals that results in offspring that carry part of the genetic material of each parent. The parent organisms must be genetically compatible and may be from different varieties or closely related species.
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
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.
The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.
Female germ cells derived from OOGONIA and termed OOCYTES when they enter MEIOSIS. The primary oocytes begin meiosis but are arrested at the diplotene state until OVULATION at PUBERTY to give rise to haploid secondary oocytes or ova (OVUM).
An individual that contains cell populations derived from different zygotes.
Deoxyribonucleic acid that makes up the genetic material of plants.
The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.
The relationships of groups of organisms as reflected by their genetic makeup.
Genotypic differences observed among individuals in a population.
The inability of the male to effect FERTILIZATION of an OVUM after a specified period of unprotected intercourse. Male sterility is permanent infertility.
An assisted reproductive technique that includes the direct handling and manipulation of oocytes and sperm to achieve fertilization in vitro.
A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.
The male gonad containing two functional parts: the SEMINIFEROUS TUBULES for the production and transport of male germ cells (SPERMATOGENESIS) and the interstitial compartment containing LEYDIG CELLS that produce ANDROGENS.
Any method used for determining the location of and relative distances between genes on a chromosome.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
The restriction of a characteristic behavior, anatomical structure or physical system, such as immune response; metabolic response, or gene or gene variant to the members of one species. It refers to that property which differentiates one species from another but it is also used for phylogenetic levels higher or lower than the species.
A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.
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.
Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.
The location of the atoms, groups or ions relative to one another in a molecule, as well as the number, type and location of covalent bonds.
A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.
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.
An individual having different alleles at one or more loci regarding a specific character.
The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.
A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.
The functional hereditary units of PLANTS.
A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs).
A country spanning from central Asia to the Pacific Ocean.
The process of cumulative change over successive generations through which organisms acquire their distinguishing morphological and physiological characteristics.
The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.
A species of fruit fly much used in genetics because of the large size of its chromosomes.
Within a eukaryotic cell, a membrane-limited body which contains chromosomes and one or more nucleoli (CELL NUCLEOLUS). The nuclear membrane consists of a double unit-type membrane which is perforated by a number of pores; the outermost membrane is continuous with the ENDOPLASMIC RETICULUM. A cell may contain more than one nucleus. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.
An analysis comparing the allele frequencies of all available (or a whole GENOME representative set of) polymorphic markers in unrelated patients with a specific symptom or disease condition, and those of healthy controls to identify markers associated with a specific disease or condition.