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Human Genetics
Human genetics is the study of inheritance as it occurs in Human, human beings. Human genetics encompasses a variety of overlapping fields including: classical genetics, cytogenetics, molecular genetics, biochemical genetics, genomics, population genetics, developmental genetics, clinical genetics, and genetic counseling. Genes are the common factor of the qualities of most human-inherited traits. Study of human genetics can answer questions about human nature, can help understand diseases and the development of effective treatment and help us to understand the genetics of human life. This article describes only basic features of human genetics; for the genetics of disorders please see: medical genetics. For information on the genetics of DNA repair defects related to accelerated aging and/or increased risk of cancer please see: DNA repair-deficiency disorder. Genetic differences and inheritance patterns Inheritance of traits for humans are based upon Gregor Mendel's model ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Human
Humans (''Homo sapiens'') or modern humans are the most common and widespread species of primate, and the last surviving species of the genus ''Homo''. They are Hominidae, great apes characterized by their Prehistory of nakedness and clothing#Evolution of hairlessness, hairlessness, bipedality, bipedalism, and high Human intelligence, intelligence. Humans have large Human brain, brains, enabling more advanced cognitive skills that facilitate successful adaptation to varied environments, development of sophisticated tools, and formation of complex social structures and civilizations. Humans are Sociality, highly social, with individual humans tending to belong to a Level of analysis, multi-layered network of distinct social groups — from families and peer groups to corporations and State (polity), political states. As such, social interactions between humans have established a wide variety of Value theory, values, norm (sociology), social norms, languages, and traditions (co ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Achondroplasia
Achondroplasia is a genetic disorder with an autosomal dominant pattern of inheritance whose primary feature is dwarfism. It is the most common cause of dwarfism and affects about 1 in 27,500 people. In those with the condition, the Rhizomelia, arms and legs are short, while the torso is typically of normal length. Those affected have an average adult height of for males and for females. Other features can include an Macrocephaly, enlarged head with Skull bossing, prominent forehead (frontal bossing) and underdevelopment of the midface (midface hypoplasia). Complications can include sleep apnea or recurrent ear infections. Achondroplasia includes the extremely rare short-limb skeletal dysplasia with severe combined immunodeficiency. Achondroplasia is caused by a mutation in the fibroblast growth factor receptor 3 (''FGFR3'') gene that results in its protein being Gain-of-function, overactive. Achondroplasia results in impaired endochondral bone growth (bone growth within car ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Human Karyotype With Bands And Sub-bands
Humans (''Homo sapiens'') or modern humans are the most common and widespread species of primate, and the last surviving species of the genus ''Homo''. They are Hominidae, great apes characterized by their Prehistory of nakedness and clothing#Evolution of hairlessness, hairlessness, bipedality, bipedalism, and high Human intelligence, intelligence. Humans have large Human brain, brains, enabling more advanced cognitive skills that facilitate successful adaptation to varied environments, development of sophisticated tools, and formation of complex social structures and civilizations. Humans are Sociality, highly social, with individual humans tending to belong to a Level of analysis, multi-layered network of distinct social groups — from families and peer groups to corporations and State (polity), political states. As such, social interactions between humans have established a wide variety of Value theory, values, norm (sociology), social norms, languages, and traditions (co ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Human Male Karyotype
Humans (''Homo sapiens'') or modern humans are the most common and widespread species of primate, and the last surviving species of the genus ''Homo''. They are great apes characterized by their hairlessness, bipedalism, and high intelligence. Humans have large brains, enabling more advanced cognitive skills that facilitate successful adaptation to varied environments, development of sophisticated tools, and formation of complex social structures and civilizations. Humans are highly social, with individual humans tending to belong to a multi-layered network of distinct social groups — from families and peer groups to corporations and political states. As such, social interactions between humans have established a wide variety of values, social norms, languages, and traditions (collectively termed institutions), each of which bolsters human society. Humans are also highly curious: the desire to understand and influence phenomena has motivated humanity's development ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Inbreeding
Inbreeding is the production of offspring from the mating or breeding of individuals or organisms that are closely genetic distance, related genetically. By analogy, the term is used in human reproduction, but more commonly refers to the genetic disorders and other consequences that may arise from expression of wikt:deleterious, deleterious dominance (genetics), recessive traits resulting from incestuous sexual relationships and consanguinity. Animals avoid inbreeding only rarely. Inbreeding results in homozygous, homozygosity which can increase the chances of offspring being affected by recessive phenotypic trait, traits. In extreme cases, this usually leads to at least temporarily decreased Fitness (biology), biological fitness of a population (called inbreeding depression), which is its ability to survive and reproduce. An individual who inherits such deleterious traits is colloquially referred to as ''inbred''. The avoidance of expression of such deleterious recessive allel ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pedigree Chart
A pedigree chart is a diagram that shows the occurrence of certain traits through different generations of a family, most commonly for humans, show dogs, and race horses. Definition The word pedigree is a corruption of the Anglo-Norman French ''pé de grue'' or "crane's foot", either because the typical lines and split lines (each split leading to different offspring of the one parent line) resemble the thin leg and foot of a Crane (bird), crane or because such a mark was used to denote succession in pedigree charts. A pedigree results in the presentation of family information in the form of an easily readable chart. It can be simply called a "family tree". Pedigrees use a standardized set of symbols, squares represent males and circles represent females. Pedigree construction is a family history, and details about an earlier generation may be uncertain as memories fade. If the sex of the person is unknown, a diamond is used. Someone with the phenotype (trait) in question is repre ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Recessive Pedigree Chart
An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosomes is collectively known as atDNA or auDNA. For example, humans have a diploid genome that usually contains 22 pairs of autosomes and one allosome pair (46 chromosomes total). The autosome pairs are labeled with numbers (1–22 in humans) roughly in order of their sizes in base pairs, while allosomes are labelled with their letters. By contrast, the allosome pair consists of two X chromosomes in females or one X and one Y chromosome in males. Unusual combinations XYY, XXY, XXX, XXXX, XXXXX or XXYY, among other irregular combinations, are known to occur and usually cause developmental abnormalities. Autosomes still contain sexual determination genes even though they are not sex chromosomes. For example, the SRY gene on the Y chromosom ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Testis Determining Factor
Sex-determining region Y protein (SRY), or testis-determining factor (TDF), is a DNA-binding protein (also known as gene-regulatory protein/transcription factor) encoded by the ''SRY'' gene that is responsible for the initiation of male sex determination in therian mammals ( placentals and marsupials). ''SRY'' is an intronless sex-determining gene on the Y chromosome. Mutations in this gene lead to a range of disorders of sex development with varying effects on an individual's phenotype and genotype. SRY is a member of the SOX (SRY-like box) gene family of DNA-binding proteins. When complexed with the steroidogenic factor 1 (SF-1) protein, SRY acts as a transcription factor that causes upregulation of other transcription factors, most importantly SOX9. Its expression causes the development of primary sex cords, which later develop into seminiferous tubules. These cords form in the central part of the yet-undifferentiated gonad, turning it into a testis. The now-induc ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Klinefelter Syndrome
Klinefelter syndrome (KS), also known as 47,XXY, is a chromosome anomaly where a male has an extra X chromosome. These complications commonly include infertility and small, poorly functioning testicles (if present). These symptoms are often noticed only at puberty, although this is one of the most common chromosomal disorders. The birth prevalence of KS in the State of Victoria, Australia was estimated to be 223 per 100,000 males. It is named after American endocrinologist Harry Klinefelter, who identified the condition in the 1940s, along with his colleagues at Massachusetts General Hospital. The syndrome is defined by the presence of at least one extra X chromosome in addition to a Y chromosome, yielding a total of 47 or more chromosomes rather than the usual 46. Klinefelter syndrome occurs randomly. The extra X chromosome comes from the father and mother nearly equally. An older mother may have a slightly increased risk of a child with KS. The syndrome is diagnosed by ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Trisomy X
Trisomy X, also known as triple X syndrome and characterized by the karyotype 47,XXX, is a chromosome disorder in which a female has an extra copy of the X chromosome. It is relatively common and occurs in 1 in 1,000 females, but is rarely diagnosed; fewer than 10% of those with the condition know they have it. Those who have symptoms can have learning disabilities, mild dysmorphic features such as hypertelorism (wide-spaced eyes) and clinodactyly (incurved little fingers), early menopause, and increased height. As the symptoms of trisomy X are often not serious enough to prompt a karyotype test, many cases of trisomy X are diagnosed before birth via prenatal screening tests such as amniocentesis. Most females with trisomy X live normal lives, although their socioeconomic status is reduced compared to the general population. Trisomy X occurs via a process called nondisjunction, in which normal cell division is interrupted and produces gametes with too many or too few chromosomes ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
X Inactivation
X-inactivation (also called Lyonization, after English geneticist Mary F. Lyon, Mary Lyon) is a process by which one of the copies of the X chromosome is inactivated in therian female mammals. The inactive X chromosome is silenced by being packaged into a transcriptionally inactive structure called heterochromatin. As nearly all female mammals have two X chromosomes, X-inactivation prevents them from having twice as many X chromosome gene products as males, who only possess a single copy of the X chromosome (see dosage compensation). The choice of which X chromosome will be inactivated in a particular embryonic cell is random in eutheria, placental mammals such as humans, but once an X chromosome is inactivated it will remain inactive throughout the lifetime of the cell and its descendants in the organism (its cell line). The result is that the choice of inactivated X chromosome in all the cells of the organism is a random distribution, often with about half the cells having ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Coffin–Lowry Syndrome
Coffin–Lowry syndrome is a genetic disorder that is X-linked dominant and which causes severe mental problems sometimes associated with abnormalities of growth, cardiac abnormalities, kyphoscoliosis, and auditory and visual abnormalities. Presentation Symptoms of disease are more severe in males, who are generally diagnosed in early childhood. Children with CLS display cognitive disabilities of varying severity. Additional neuromuscular features include sleep apnea, muscular spasticity, progressive loss of muscle strength and tone leading to paraplegia or partial paralysis. Affected individuals are at elevated risk of stroke. Some patients experience stimulus-induced drop attacks (SIDAs, temporary paralytic episodes without loss of consciousness), triggered by unpredictable environmental stimuli (touch, scents, sounds, etc.). SIDA episodes become more frequent as the disease progresses, and become frequent around adolescence in males. Additional clinical physical features inclu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
