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Online Mendelian Inheritance In Man
Online Mendelian Inheritance in Man (OMIM) is a continuously updated catalog of human genes and genetic disorders and traits, with a particular focus on the gene-phenotype relationship. , approximately 9,000 of the over 25,000 entries in OMIM represented phenotypes; the rest represented genes, many of which were related to known phenotypes. Versions and history OMIM is the online continuation of Victor A. McKusick's ''Mendelian Inheritance in Man'' (MIM), which was published in 12 editions between 1966 and 1998.McKusick, V. A. ''Mendelian Inheritance in Man. Catalogs of Autosomal Dominant, Autosomal Recessive and X-Linked Phenotypes.'' Baltimore, MD: Johns Hopkins University Press, 1st ed, 1996; 2nd ed, 1969; 3rd ed, 1971; 4th ed, 1975; 5th ed, 1978; 6th ed, 1983; 7th ed, 1986; 8th ed, 1988; 9th ed, 1990; 10th ed, 1992. Nearly all of the 1,486 entries in the first edition of MIM discussed phenotypes. MIM/OMIM is produced and curated at the Johns Hopkins School of Medicine ( ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Human Genome
The human genome is a complete set of nucleic acid sequences for humans, encoded as the DNA within each of the 23 distinct chromosomes in the cell nucleus. A small DNA molecule is found within individual Mitochondrial DNA, mitochondria. These are usually treated separately as the nuclear genome and the Human mitochondrial genetics, mitochondrial genome. Human genomes include both protein-coding DNA sequences and various types of non-coding DNA, DNA that does not encode proteins. The latter is a diverse category that includes DNA coding for non-translated RNA, such as that for ribosomal RNA, transfer RNA, ribozymes, small nuclear RNAs, and several types of RNA#Regulatory RNA, regulatory RNAs. It also includes Promoter (biology), promoters and their associated Cis-regulatory element, gene-regulatory elements, DNA playing structural and replicatory roles, such as Scaffold/matrix attachment region, scaffolding regions, telomeres, centromeres, and Origin of replication, origins of repl ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
National Human Genome Research Institute
The National Human Genome Research Institute (NHGRI) is an institute of the National Institutes of Health, located in Bethesda, Maryland. NHGRI began as the Office of Human Genome Research in The Office of the Director in 1988. This Office transitioned to the National Center for Human Genome Research (NCHGR), in 1989 to carry out the role of the NIH in the International Human Genome Project (HGP). The HGP was developed in collaboration with the United States Department of Energy (DOE) and began in 1990 to sequence the human genome. In 1993, NCHGR expanded its role on the NIH campus by establishing the Division of Intramural Research (DIR) to apply genome technologies to the study of specific diseases. In 1996, the Center for Inherited Disease Research (CIDR) was also established (co-funded by eight NIH institutes and centers) to study the genetic components of complex disorders. In 1997 the United States Department of Health and Human Services (DHHS) renamed NCHGR the National Hum ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medical Classification
A medical classification is used to transform descriptions of medical diagnoses or procedures into standardized statistical code in a process known as clinical coding. Diagnosis classifications list diagnosis codes, which are used to track diseases and other health conditions, inclusive of chronic diseases such as diabetes mellitus and heart disease, and infectious diseases such as norovirus, the flu, and athlete's foot. Procedure classifications list procedure codes, which are used to capture interventional data. These diagnosis and procedure codes are used by health care providers, government health programs, private health insurance companies, workers' compensation carriers, software developers, and others for a variety of applications in medicine, public health and medical informatics, including: * statistical analysis of diseases and therapeutic actions * reimbursement (e.g., to process claims in medical billing based on diagnosis-related groups) * knowledge-based an ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Online Mendelian Inheritance In Animals
Online Mendelian Inheritance in Animals (OMIA) is an online database of genes, inherited disorders and traits in more than 550 animal species. It is modelled on, and is complementary to, Online Mendelian Inheritance in Man (OMIM). It aims to provide a publicly accessible catalogue of all animal phenes, excluding those in human and mouse, for which species specific resources are already available (OMIM, MLC). Authored by Professor Frank Nicholas of the University of Sydney, with some contribution from colleagues, the database contains textual information and references as well as links to relevant PubMed and Gene records at the NCBI. OMIA is hosted by the University of Sydney, with an Entrez mirror located at the NCBI. See also * Medical classification A medical classification is used to transform descriptions of medical diagnoses or procedures into standardized statistical code in a process known as clinical coding. Diagnosis classifications list diagnosis codes, which a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mendelian Inheritance
Mendelian inheritance (also known as Mendelism) is a type of biological inheritance following the principles originally proposed by Gregor Mendel in 1865 and 1866, re-discovered in 1900 by Hugo de Vries and Carl Correns, and later popularized by William Bateson. These principles were initially controversial. When Mendel's theories were integrated with the Boveri–Sutton chromosome theory of inheritance by Thomas Hunt Morgan in 1915, they became the core of classical genetics. Ronald Fisher combined these ideas with the theory of natural selection in his 1930 book '' The Genetical Theory of Natural Selection'', putting evolution onto a mathematical footing and forming the basis for population genetics within the modern evolutionary synthesis. History The principles of Mendelian inheritance were named for and first derived by Gregor Johann Mendel, a nineteenth-century Moravian monk who formulated his ideas after conducting simple hybridization experiments with pea p ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Caret
Caret () is the name used familiarly for the character provided on most QWERTY keyboards by typing . The symbol has a variety of uses in programming and mathematics. The name "caret" arose from its visual similarity to the original proofreader's caret, , a mark used in proofreading to indicate where a punctuation mark, word, or phrase should be inserted into a document. The ASCII standard (X3.64.1977) calls it a "circumflex"; the Unicode standard calls it a "circumflex accent", although it is no longer practicable for that purpose. History Typewriters On typewriters designed for languages that routinely use diacritics (accent marks), there are two possible ways to type these: keys can be dedicated to precomposed characters (with the diacritic included); alternatively a dead key mechanism can be provided. With the latter, a mark is made when a dead key is typed but, unlike normal keys, the paper carriage does not move on and thus the next letter to be typed is printed under ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Allelic Heterogeneity
An allele is a variant of the sequence of nucleotides at a particular location, or locus, on a DNA molecule. Alleles can differ at a single position through single nucleotide polymorphisms (SNP), but they can also have insertions and deletions of up to several thousand base pairs. Most alleles observed result in little or no change in the function or amount of the gene product(s) they code or regulate for. However, sometimes different alleles can result in different observable phenotypic traits, such as different pigmentation. A notable example of this is Gregor Mendel's discovery that the white and purple flower colors in pea plants were the result of a single gene with two alleles. Nearly all multicellular organisms have two sets of chromosomes at some point in their biological life cycle; that is, they are diploid. For a given locus, if the two chromosomes contain the same allele, they, and the organism, are homozygous with respect to that allele. If the alleles are differe ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal
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 chrom ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mitochondrial
A mitochondrion () is an organelle found in the cells of most eukaryotes, such as animals, plants and fungi. Mitochondria have a double membrane structure and use aerobic respiration to generate adenosine triphosphate (ATP), which is used throughout the cell as a source of chemical energy. They were discovered by Albert von Kölliker in 1857 in the voluntary muscles of insects. The term ''mitochondrion'', meaning a thread-like granule, was coined by Carl Benda in 1898. The mitochondrion is popularly nicknamed the "powerhouse of the cell", a phrase popularized by Philip Siekevitz in a 1957 ''Scientific American'' article of the same name. Some cells in some multicellular organisms lack mitochondria (for example, mature mammalian red blood cells). The multicellular animal '' Henneguya salminicola'' is known to have retained mitochondrion-related organelles despite a complete loss of their mitochondrial genome. A large number of unicellular organisms, such as microsporidia ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Y-linked
Y linkage, also known as holandric inheritance (from Ancient Greek ὅλος ''hólos'', "whole" + ἀνδρός ''andrós'', "male"), describes traits that are produced by genes located on the Y chromosome. It is a form of sex linkage. Y linkage can be difficult to detect. This is partly because the Y chromosome is small and contains fewer genes than the autosomal chromosomes or the X chromosome. It is estimated to contain about 200 genes. It was once believed that the human Y chromosome was thought to have little importance. While the Y-chromosome is sex-determining in humans and some other species, not all genes that play a role in sex determination are Y-linked. The Y-chromosome, generally does not undergo genetic recombination except at small pseudoautosomal regions. The majority of the Y-chromosome genes that do not recombine are located in the "non-recombining region". For a trait to be considered Y linkage, it must exhibit the following characteristics: * o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
X-linked
Sex linkage describes the sex-specific patterns of inheritance and expression when a gene is present on a sex chromosome (allosome) rather than a non-sex chromosome ( autosome). Genes situated on the X-chromosome are thus termed X-linked, and are transmitted by both males and females, while genes situated on the Y-chromosome are termed Y-linked, and are transmitted by males only. As human females possess two X-chromosomes and human males possess one X-chromosome and one Y-chromosome, the phenotype of a sex-linked trait can differ between males and females due to the differential number of alleles (polymorphisms) possessed for a given gene. In humans, sex-linked patterns of inheritance are termed X-linked recessive, X-linked dominant and Y-linked. The inheritance and presentation of all three differ depending on the sex of both the parent and the child. This makes sex-linked patterns of inheritance characteristically different from autosomal dominance and recessiveness. T ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Locus (genetics)
In genetics, a locus (: loci) is a specific, fixed position on a chromosome where a particular gene or genetic marker is located. Each chromosome carries many genes, with each gene occupying a different position or locus; in humans, the total number of Human genome#Coding sequences (protein-coding genes), protein-coding genes in a complete haploid set of 23 chromosomes is estimated at 19,000–20,000. Genes may possess multiple variants known as alleles, and an allele may also be said to reside at a particular locus. Diploid and polyploid cells whose chromosomes have the same allele at a given locus are called homozygote, homozygous with respect to that locus, while those that have different alleles at a given locus are called heterozygote, heterozygous. The ordered list of loci known for a particular genome is called a gene map. Gene mapping is the process of determining the specific locus or loci responsible for producing a particular phenotype or biological trait. Association ma ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
