Unreferenced stub auto yes date December 2009 In embryology , anlage is the primordium , the initial clustering of embryo nic cells that serves as a foundation from which a body part or an Organ anatomy organ develops. Failure to progress past this stage in organ development is known as agenesis . In genetics , anlage is often used synonymously with allele or gene . The genetic use of the term goes back to Gregor Mendel , who explained his observations on peas as being caused by Dominance relationship dominant and recessive Anlagen allele s . In psychoanalysis , anlage is a predisposition to a given Personality type personality characteristic or a trait. DEFAULTSORT Anlage Biology Category Developmental biology Developmental biology stub Genetics stub de Anlage Biologie ... more details
by lowering wildtype gene dose. m Dp > m > m Df Antimorph Antimorph s are Dominancerelationship dominant mutations that act in opposition to normal gene activity. Antimorphs are also ... 255. br Wilkie, A. O. 1994. The molecular basis of genetic dominance. Journal of Medical Genetics ... more details
The downregulated in adenoma DRA is a membrane protein in Enterocyte intestinal cells . It is an Ion exchange anion exchanger and a member SLC26A3 of the sulfate anion transporter SAT family. It mediates chloride and bicarbonate exchange and additionally transports sulfate and other anion s at the apical membrane , part of the plasma membrane of enterocytes. The congenital absence of this membrane protein results in an Dominance relationship autosomal recessive disorder called congenital chloridorrhea or congenital chloride diarrhea CLD . It is different from the anion exchanger that present in erythrocytes, renal tubule, and several other tissues. External links Sterling, D., et al. 2002 . http ajpcell.physiology.org cgi reprint 00115.2002v1.pdf The functional and physical relationship between the downregulated in adenoma bicarbonate transporter and carbonic anhydrase II. Am J Physiol . Alrefai WA, et al. 2007 http dx.doi.org 10.1152 ajpgi.00029.2007 Molecular cloning and promoter analysis of downregulated in adenoma DRA Am J Physiol . Category Membrane proteins Category Gastroenterology health stub ... more details
unreferenced date July 2011 Image Black Baldy.jpg thumb 250px A Black Baldy cow and calf Black Baldy is a type of crossbred beef cattle produced by crossing Hereford cattle Hereford cattle with a solid black breed, usually Aberdeen Angus . Angus bulls are also used on Hereford heifer s in an attempt to produce smaller calves and reduce dystocia . The term is particularly used in Australia and New Zealand . In North America , the term Black Whiteface is also used in some regions. It is characterized by a white face similar to the Hereford, but the red body color of the Hereford is replaced by black from the Angus. This is because both the allele s for white faces and black coat color are both dominance relationship dominant allele genetically dominant in cattle. Black Baldy cows are noted for their good mothering abilities. In addition to general hybrid vigor expected with a crossbred, the cross also produces black skin, which in sunny climates reduces the prevalence of sunburn on bare skin, such as the udder of the cow. The prevalence of Black Baldies significantly increases wherever cattle breeders switch from the traditional Hereford herds to the Aberdeen Angus breed. A cross of Hereford cattle on predominantly black colored dairy breeds results in a similarly marked crossbred called the Black Hereford hybrid Black Hereford in the British Isles . Category Cattle breeds originating in Australia Category Cattle breeds cattle stub ... more details
Merge to MNS antigen system date September 2011 Refimprove date April 2007 The MN blood group in humans is under the control of a pair of Dominance relationship Co dominance co dominant allele s, L sup M sup and L sup N sup . Most people in the Eskimo population are M M, while this genotype is rare among Indigenous Australians Aborigines . In fact, they tend to possess the opposite genotype N N . The MN blood group system is under the control of an autosomal locus found on chromosome 4 out of 23, with two alleles designated LM and LN. The blood type is due to a glycoprotein present on the surface of red blood cells, which behaves as a native antigen . Phenotypic expression at this locus is codominant because an individual may exhibit either one or both antigenic substances. Frequencies of the two alleles vary widely among human populations. ref Ralph H. Kathan and Anthony Adamany. 1967. Comparison of Human MM, NN, and MN Blood Group Antigens. The Journal of Biological Chemistry, 242, 1716 1722. ref References references Mark E. Brecher, Editor 2005 , AABB Technical Manual , fifteenth edition, Bethesda, MD AABB, ISBN 1 56935 19607, p. 336 340 Denise M. Harmening 1999 , Modern Blood Banking and Transfusion Practices , Philadelphia, PA F.A. Davis Company, p. 164 169 http www.mun.ca biology scarr MN bloodgroup.html Category Genetics genetics stub ... more details
Infobox Disease Name PAGENAME Image Caption DiseasesDB ICD10 ICD9 ICDO OMIM 600399 MedlinePlus eMedicineSubj eMedicineTopic MeshID Zori Stalker Williams syndrome , also known as pectus excavatum, macrocephaly, short stature and dysplastic nails , ref name omim is a rare autosome autosomal dominance genetics dominant ref name zswad cite journal author Zori RT, Stalker HJ, Williams CA title A syndrome of familial short stature, developmental delay, pectus abnormalities, distinctive facies, and dysplastic nails journal Dysmorph Clin Genet. volume 6 pages 116&ndash 122 year 1992 ref congenital disorder associated with a range of features such as Pectus excavatum , macrocephaly and dysplastic nails , familial short stature, developmental delay and distinctive facies . ref RareDiseases 374 Zori Stalker Williams syndrome ref ref name orpha cite web url http www.orpha.net consor cgi bin Disease Search.php?lng EN&data id 2572 title Pectus excavatum macrocephaly dysplastic nails format work Orphanet accessdate ref Further signs are known to be associated with this syndrome. ref http www.orpha.net consor cgi bin patsgn data.php?PatId 2572&PatLbl Pectus excavatum macrocephaly dysplastic nails&Asb Pat&PHPSESSID 28eba7421d3ae4cea7fae36b130d362d ORPHANET About rare diseases About orphan drugs Bot generated title ref The name originates from the researchers who first defined and noticed the syndrome and its clinical signs. ref name omim OMIM 600399 Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails ref It is believed that the syndrome is inherited in an autosomal Dominance relationship Dominant allele dominant pattern, though there has been no new research undertaken for this rare disease. ref name omim Image autodominant.jpg thumb right PAGENAME has an autosomal dominant pattern of inheritance . References reflist Phakomatoses and other congenital malformations not elsewhere classified Category Autosomal ... more details
Infobox Disease Name Buschke Ollendorff syndrome Image Caption DiseasesDB 30071 ICD10 ICD9 ICDO OMIM 166700 MedlinePlus eMedicineSubj eMedicineTopic MeshID Buschke Ollendorff syndrome , also known as Dermatofibrosis lenticularis disseminata , ref name Bolognia cite book author Rapini, Ronald P. Bolognia, Jean L. Jorizzo, Joseph L. title Dermatology 2 Volume Set publisher Mosby location St. Louis year 2007 pages isbn 1 4160 2999 0 oclc doi accessdate ref is a rare laminopathy genetic disorder associated with LEMD3 . It is believed to be inherited in an autosome autosomal Dominance relationship Dominant allele dominant manner. ref name omim OMIM 166700 ref It is named for Abraham Buschke and Helene Ollendorff Curth ref WhoNamedIt synd 1803 ref ref A. Buschke, H. Ollendorff Curth. Ein Fall von Dermatofibrosis lenticularis disseminata und Osteopathia condensans disseminata. Dermatologische Wochenschrift, Hamburg, 1928, 86 257 262. ref who described it in a 45 year old woman. Its frequency is almost 1 case per every 20 000 people and is equally found in both males and females. ref cite url http emedicine.medscape.com article 1117654 overview title Dermatofibrosis Lenticularis Buschke Ollendorf Syndrome publisher eMedicine author Lukasz Matusiak date 2 July 2008 accessdate 2009 09 05 ref Genetics Image Autodominant.jpg thumb right Buschke Ollendorff syndrome has an autosomal dominant pattern of heredity inheritance . Buschke Ollendorff syndrome is inherited in an autosomal dominant manner. ref name omim This means that the defective gene responsible for the disorder is located on an autosome , and one copy of the defective gene is sufficient to cause the disorder when inherited from a parent who also has the disorder. See also Osteopoikilosis List of cutaneous conditions Melorheostosis References reflist External links RareDiseases 1044 Buschke Ollendorff syndrome Cytoskeletal defects Category Autosomal dominant disorders Category Syndromes Category Dermal and subcutaneou ... more details
for the colour bluish grey Citations missing article date December 2010 Blue Grey is a type of beef cattle popular in Scotland and the north of England . It is traditionally produced by crossing a whitebred shorthorn bull with black Galloway cattle Galloway cows. The offspring gain beefiness from their sire and hardiness from their upland dams, and their colour is a blue roan color roan which is regarded as attractive by many farmers. Due to the genetic origin of roan colouration in cattle, this colour does not breed true. This is because roan is the result of Dominance relationship Incomplete dominance incomplete dominance between white and solid colour. Roan is produced consistently only in the first generation cross between these. On average only half of the offspring of two blue roan cattle will be blue roan themselves, with the other half being either solid white or solid black. The Blue Grey cross became so popular that a special type of Shorthorn was developed to produce white Shorthorn bulls &ndash the Whitebred Shorthorn . They are well suited for rough grazing land and will utilize coarse grasses other breeds would shun. They are able to maintain good condition on less than ideal pasture and do not graze so intensively as sheep. ref name limestonecountry http www.yorkshiredales.org.uk index lookingafter projectwork limestonecountryproject.htm Yorkshire Dales National Park Authority, Limestone Country Project. Access date August 2011 ref See also Shorthorn Whitebred Shorthorn Galloway cattle Blue Albion References references External links http www.whitebredshorthorn.com bluegrey index.html Blue Grey information on Whitebred Shorthorn Association UK web page. Category Cattle breeds originating in the United Kingdom cattle stub ... more details
genetic sources of cropouts in Paint horses, as there are some forms of overo that are dominancerelationship ... Previews At one time, the overo gen e was thought to be a dominancerelationship dominant gene , though ... more details
Hereditary cystatin C amyloid angiopathy HCCAA is a rare, fatal amyloid disease in young people in Iceland caused by a mutation in cystatin C . Most of the families with the defect gene can be traced to a region in the northwest of Iceland , around Brei afj r ur . ref http www.ncbi.nlm.nih.gov pubmed 16612982 Hereditary cystatin C amyloid angiopathy genetic, clinical, and pathological aspects. ref Mutation s in the cystatin 3 gene are responsible for the Iceland ic type of hereditary cerebral amyloid angiopathy , a condition predisposing to intracerebral haemorrhage , stroke and dementia . ref name pmid2541223 cite journal author Levy E, Lopez Otin C, Ghiso J, Geltner D, Frangione B title Stroke in Icelandic patients with hereditary amyloid angiopathy is related to a mutation in the cystatin C gene, an inhibitor of cysteine proteases journal J. Exp. Med. volume 169 issue 5 pages 1771 8 year 1989 month May pmid 2541223 doi 10.1084 jem.169.5.1771 url pmc 2189307 PMC 2189307 ref ref name pmid16612983 cite journal author Levy E, Jaskolski M, Grubb A title The role of cystatin C in cerebral amyloid angiopathy and stroke cell biology and animal models journal Brain Pathol. volume 16 issue 1 pages 60 70 year 2006 month January pmid 16612983 doi 10.1111 j.1750 3639.2006.tb00562.x url ref The condition is inherited in a Dominance relationship dominant fashion . References Reflist Amyloidosis Category Vascular diseases Category Neurological disorders Category Health in Iceland is Arfgeng heilabl ing ... more details
Infobox Anatomy Name Earlobe Latin lobulus auriculae singular , lobuli auricularum plural GraySubject 229 GrayPage 1034 Image Gray904.png Width 120 Caption Image2 Caption2 System Auditory system Precursor MeshName MeshNumber DorlandsPre l 13 DorlandsSuf 12500813 The human earlobe is composed of tough Areolar connective tissue areolar and adipose fatty connective tissue s, lacking the firmness and elasticity of the rest of the pinna. Since the earlobe does not contain cartilage it has a large blood supply and may help to warm the ears and maintain balance. However earlobes are not generally considered to have any major biological function. ref cite web author Popelka, Gerald title Re Why do we have earlobes, what are they for, since when? date August 31 1999 publisher MadSci Network url http www.madsci.org posts archives aug99 934627537.Ev.r.html ref The earlobe contains many nerve ending s, and for some people is an erogenous zone . Size and shape Earlobes average about 2 cm long, and elongate slightly with age. ref cite journal author Azaria R, Adler N, Silfen R, Regev D, Hauben DJ title Morphometry of the adult human earlobe a study of 547 subjects and clinical application journal Plast. Reconstr. Surg. volume 111 issue 7 pages 2398 402 discussion 2403 4 year 2003 month June pmid 12794488 doi 10.1097 01.PRS.0000060995.99380.DE url http meta.wkhealth.com pt pt core template journal lwwgateway media landingpage.htm?issn 0032 1052&volume 111&issue 7&spage 2398 ref Whether the earlobe is free or attached is a classic example of a Dominance relationship Simple dominance or complete dominance simple genetic dominance relationship Dubious date March 2011 freely hanging earlobes are the dominant allele and attached earlobes are recessive. Therefore, a person whose genes contain one allele for free earlobes and one for attached lobes will display the freely hanging lobe trait. It is a common misconception that this implies a precise 3 to 1 ratio between free and attac ... more details
Taxobox name Chiroxiphia image Prachtpipra Chiroxiphia pareola 02.jpg image caption Chiroxiphia pareola regnum Animal ia phylum Chordate Chordata classis Bird Aves ordo Passeriformes familia Pipridae genus Chiroxiphia genus authority Jean Cabanis Cabanis , 1847 subdivision ranks Species subdivision Chiroxiphia lanceolata Chiroxiphia linearis Chiroxiphia pareola Chiroxiphia boliviana Chiroxiphia caudata Chiroxiphia is one of several genus genera of manakin s, small song birds of South America South and Central America . The male plumage is a striking combination of black and bright blue. The crown is red, except in the yellow crowned C. pareola regina . Females are comparably dull olive greenish overall. Juveniles of both sexes resemble the adult female. As the male plumage takes several years to complete, individuals showing a level of intermediacy between full adult male and female like juveniles are commonly seen in particular female plumaged birds with red, or yellow in C. pareola regina , crowns . Manakins of the genus Chiroxiphia have an unusual mating system , based on female mate choice . In order to mate successfully, males have to form partnerships with another male. The two males co operate in an elaborate courtship dance, and sing a joint bird song song called a duet at one of many traditionally fixed mating sites the area where mating takes place can be described as an exploded lek animal behavior lek . In some species such as the Blue Manakin , these partnerships typically consist of three males. Females attend a number of these courtship sites, observing the male displays and eventually allow a male at one of the sites to mate. The males can typically be designated alpha and beta, since there is a clear dominance hierarchy dominance relationship between them. There is only ever one alpha male, but, depending on species, there may be one or two beta males. Beta males are sometimes sub adults easily recognized, as their plumage retain female like charact ... more details
Unreferenced date December 2009 A null allele is a mutant allele copy of a gene that completely lacks that gene s normal function. This can be the result of the complete absence of the gene product protein, RNA at the molecular level, or the expression of a non functional gene product. At the phenotype phenotypic level, a null allele is indistinguishable from a deletion of the entire locus genetics locus . A mutant allele that produces no protein is called a protein null shown by Western blot western analysis , and one that produces no RNA is called an RNA null shown by Northern blot Northern analysis or by DNA sequencing of a deletion allele . A genetic null or Muller s morphs amorph ic allele has the same phenotype when homozygous as when heterozygous with a deficiency that disrupts the locus in question. A genetic null allele can be a protein and RNA null, but can also express normal levels of a gene product that is non functional due to mutation. Another definition of null allele concerning molecular markers, refers to such a marker in the case it can no longer be detected because of a mutation. For example, Microsatellite genetics microsatellite s i.e. a repetitive sequence of DNA, in which the repeat is rather short are used as molecular markers amplifying them through Polymerase chain reaction PCR . To do so, a Primer molecular biology primer or oligonucleotide aligns with either of ends of the locus. If a mutation occurs in the annealing site, then the marker can no longer be used and the allele is turned into a null allele. One example of a null allele is the O blood type allele in the human A, B and O blood types blood type system . The alleles for the A antigen and B antigen are Dominance relationship co dominant , thus they are both phenotype phenotypically expressed if both are present. The allele for O blood type, however, is a mutated version of the allele for the A antigen, with a single base pair change due to genetic mutation . The protein coded fo ... more details
Refimprove date June 2008 Infobox Disease Name PAGENAME Image Caption DiseasesDB 29767 ICD10 ICD9 ICDO OMIM 161000 MedlinePlus eMedicineSubj derm eMedicineTopic 736 MeshID Naegeli Franceschetti Jadassohn syndrome NFJS , also known as chromatophore nevus of Naegeli and Naegeli syndrome , ref name Andrews cite book author James W, Berger T, Elston D year 2005 title Andrews Diseases of the Skin Clinical Dermatology 10th ed. publisher Saunders isbn 0 7216 2921 0 page 548 ref ref name omim OMIM 161000 ref is a rare autosome autosomal Dominance relationship Dominant allele dominant ref name nfjsad cite journal pmid 16960809 year 2006 month Oct author Lugassy, J Itin, P Ishida Yamamoto, A Holland, K Huson, S Geiger, D Hennies, Hc Indelman, M Bercovich, D Uitto, J Bergman, R Mcgrath, Ja Richard, G Sprecher, E title Naegeli Franceschetti Jadassohn syndrome and dermatopathia pigmentosa reticularis two allelic ectodermal dysplasias caused by dominant mutations in KRT14 volume 79 issue 4 pages 724 30 pmc 1592572 doi 10.1086 507792 journal American journal of human genetics ref form of ectodermal dysplasia , characterized by reticular skin pigmentation, diminished function of the sweat glands, the absence of teeth and hyperkeratosis of the palms and soles. One of the most striking features is the absence of fingerprint lines on the fingers. Naegeli syndrome is similar to Dermatopathia pigmentosa reticularis , ref cite journal author Schnur R, Heymann W title Reticulate hyperpigmentation journal Semin Cutan Med Surg. volume 16 issue 1 pages 72 80 year 1997 pmid 9125768 doi 10.1016 S1085 5629 97 80038 7 ref both of which are caused by a specific defect in the keratin 14 protein. Cause and Genetics Image autodominant.jpg thumb right PAGENAME has an autosomal dominant pattern of heredity inheritance . NFJS is caused by mutations in the keratin 14 KRT14 gene, located on chromosome chromosome 17 human 17q12 21 . ref name nfjsad ref OMIM 148066 ref The disorder is inerited in an autoso ... more details
Infobox Disease Name Bethlem myopathy Image Caption DiseasesDB 32019 ICD10 G71.2 ICD9 ICDO OMIM 158810 MedlinePlus eMedicineSubj eMedicineTopic MeshID Bethlem myopathy is an autosomal Dominance relationship Dominant allele dominant ref name bm cite journal author Jobsis GJ, Boers JM, Barth PG, de Visser M title Bethlem myopathy a slowly progressive congenital muscular dystrophy with contractures journal Brain volume 122 issue 4 pages 649 655 year 1999 pmid 10219778 doi 10.1093 brain 122.4.649 ref myopathy , classified as a congenital form of muscular dystrophy , ref name bm that is caused by a variation in one of the three genes coding for type VI collagen . ref name bm These include COL6A1 , COL6A2 , and COL6A3 . ref name pmid16141002 cite journal author Lampe AK, Bushby KM title Collagen VI related muscle disorders journal J. Med. Genet. volume 42 issue 9 pages 673 85 year 2005 month September pmid 16141002 pmc 1736127 doi 10.1136 jmg.2002.002311 url http jmg.bmj.com cgi pmidlookup?view long&pmid 16141002 ref Presentation The onset of this disease begins in childhood, but its progression is extremely slow, with symptoms of weakness and walking difficulties usually not presenting until past age 50. Early symptoms include Gower s sign climbing up the thighs with the hands when rising from the floor and tiptoe walking caused by the beginning of contracture s. Bethlem myopathy is an extremely rare disorder, with fewer than 100 families worldwide known to have it. It is sometimes known as Leonard syndrome after one of the presenting families. Contractures of the fingers are a typical symptom of Bethlem myopathy but not of the related Ullrich s myopathy which does include contractures of arms and legs, as does Bethlem myopathy . Blood serum Serum creatine kinase is elevated in Bethlem myopathy, as there is ongoing muscle cell death. Patients with Bethlem myopathy may expect a normal life span and continued mobility into adulthood. There is currently no cure for this dis ... more details
unreferenced date May 2010 A genetic carrier or just carrier , is a person or other organism that has Genetics inherited a Phenotype genetic trait or mutation , but who does not display that trait or show symptoms of the Genetic disease disease . They are, however, able to Heredity pass the gene onto their offspring, who may then express the gene. This phenomenon is a direct result of the Dominance relationship Recessive allele recessive nature of many genes. For example, the daughters of Queen Victoria of the United Kingdom Victoria , the princesses Alice and Beatrix, were carriers of the Sex linked X linked hemophilia gene more precisely, an abnormal allele of a gene necessary to produce one of the blood clotting factors . Both had children who continued to pass the gene to succeeding generations of the royal houses of Spain and Russia , into which they married. Males who carried the altered gene had hemophilia, while females simply passed it to about half of their children. Up to 1 in 25 individuals of Northern European ancestry may be considered carriers of mutations that could lead to Cystic Fibrosis . The disease appears only when two of these carriers have children, as each pregnancy between them will have a 25 chance of producing a child with the disease. However, it is also thought that carriers may be more resistant to diarrhea during typhoid fever or cholera , and are therefore not truly asymptomatic. This resistance leads to Heterozygote advantage increased survival of the carriers, thereby increasing the frequency of the altered Cystic fibrosis transmembrane conductance regulator genes in the population. Genetic carrier testing can be used to tell if a person carries one or more mutations of the CF gene and how many copies of each mutation. The test looks at a person s DNA genetic material , which is taken from cells in a blood sample or from cells that are gently scraped from inside the mouth. Although only about one of every 3,000 Caucasian newborns h ... more details
copy of the Dominancerelationship Incomplete dominance incomplete dominant cream gene . Palominos ... and is genetically the most dominancerelationship recessive coat color that exists in modern horses ... MC1R proteins are inherited dominancerelationship dominantly and result in a black based coat color ... horse bay , referred to as sooty gene sooty coloration toss if this isn t about sooty follow a Dominancerelationship recessive mode of inheritance. ref name henner2002 cite journal last Henner first .... Additional coat colors based on chestnut are often described in terms of their relationship to chestnut ... more details
italictitle taxobox image Matthiola incana1.jpg regnum Plantae unranked divisio Angiosperms unranked classis Eudicots unranked ordo Rosids ordo Brassicales familia Brassicaceae genus Matthiola species M. incana binomial Matthiola incana binomial authority L. W.T.Aiton Matthiola incana is one of several species of Matthiola stock . It is known by the common names hoary stock and tenweeks stock . It is a common garden flower, available in a variety of colours. Main varieties of stocks Some stocks are grown as annuals the Ten week Stocks . These varieties are sown in spring generally from March onwards in colder areas, earlier in regions with mild winters . They give a good summer flower display. Other varieties take longer to develop and are treated as biennials. These are often referred to as Brompton stocks . In cool temperate regions they are generally sown in summer June and July to flower in the following spring. The extra trouble of overwintering the plants is compensated by the showy spring floral display. In hard winters there may be some mortality and a well drained sheltered site suits them best. Intermediate varieties sometimes called East Lothian stocks as they originated in southern Scotland may be treated either as annuals or biennials. If treated as annuals they give a fine late summer and autumn display. The genetics of ever sporting stocks Double flowered stocks are prized by gardeners for their floral display but are sterile. They therefore have to be produced from the seed of single flowered plants. The double flowered form is caused by a dominance relationship recessive gene variant allele in the homozygous condition. Therefore, according to the Gregor Mendel Mendelian laws of genetics, heterozygous single flowered stocks should throw one quarter doubles in their offspring and one third of the singles should be pure breeding singles incapable of throwing doubles. Image 2006 12 01Matthiola05.jpg thumb right double flowered stock, Matthiola incana Se ... more details
Infobox disease Name Zimmermann Laband syndrome Image Caption DiseasesDB 34028 ICD10 ICD10 Group Major minor LinkGroup LinkMajor ICD9 ICD9 xxx ICDO OMIM 135500 MedlinePlus eMedicineSubj eMedicineTopic MeshID Zimmermann Laband syndrome ZLS , ref http acronyms.thefreedictionary.com Zimmermann Laband Syndrome Zimmermann Laband Syndrome What does ZLS stand for? Acronyms and abbreviations by the Free Online Dictionary Bot generated title ref also known as Laband Zimmermann syndrome , ref name bolognia cite book author Bolognia, Jean L. et al. title Dermatology publisher Mosby location St. Louis year 2007 pages isbn 1 4160 2999 0 oclc doi accessdate ref and Laband s Syndrome , ref name PeaceHealth http www.peacehealth.org kbase nord nord1063.htm Laband Syndrome Bot generated title ref is an extremely rare ref RareDiseases 385 Zimmerman Laband syndrome Fibromatosis gingival, with abnormal fingers, fingernails, nose and ears, and splenomegaly ref autosomal Dominance relationship Dominant allele dominant ref cite journal pmid 14514238 year 2003 month August author Holzhausen, M Gon alves, D Corr a, Fde, O Spolidorio, Lc Rodrigues, Vc Orrico, Sr title A case of Zimmermann Laband syndrome with supernumerary teeth volume 74 issue 8 pages 1225 30 issn 0022 3492 journal Journal of periodontology doi 10.1902 jop.2003.74.8.1225 ref congenital disorder . Symptoms Symptoms include gingival fibromatosis , associated with hypoplasia of the distal phalanges , nail dysplasia , joint hypermobility, and sometimes hepatosplenomegaly . ref cite journal author Atabek ME, Pirgon O, Sert A, Toy H title Zimmermann Laband syndrome in an infant with an atypical histologic finding journal Pediatr. Dev. Pathol. volume 8 issue 6 pages 654 7 year 2005 pmid 16267629 doi 10.1007 s10024 005 0048 1 url http www.springerlink.com content lr2j642757153576 ref The nose and pinna anatomy pinnae are usually large and poorly developed, which gives the individuals with the syndrome abnormal facial characteristics ... more details
A tumor suppressor gene , or anti oncogene , is a gene that protects a cell biology cell from one step on the path to cancer. When this gene is mutated to cause a loss or reduction in its function, the cell can progress to cancer, usually in combination with other genetic changes. Two hit hypothesis Unlike oncogenes , tumor suppressor genes generally follow the two hit hypothesis , which implies that both alleles that code for a particular protein must be affected before an effect is manifested. This is because if only one allele for the gene is damaged, the second can still produce the correct protein. In other words, mutant tumor suppressors alleles are usually Dominance relationship recessive whereas mutant oncogene alleles are typically Dominance relationship dominant . The two hit hypothesis was first proposed by A.G. Knudson for cases of retinoblastoma . ref cite journal author Knudson AG title Mutation and Cancer Statistical Study of Retinoblastoma journal Proc Natl Acad of Sci volume 68 issue 4 pages 820 3 year 1971 pmid 5279523 doi 10.1073 pnas.68.4.820 pmc 389051 ref Knudson observed that the age of onset of retinoblastoma followed Rate equation Second order reactions 2nd order kinetics , implying that two independent genetic events were necessary. He recognized that this was consistent with a recessive mutation involving a single gene, but requiring biallelic mutation. Oncogene mutations, in contrast, generally involve a single allele because they are gain of function mutations. There are unnoble exceptions to the two hit rule for tumor suppressors, such as certain mutations in the p53 protein p53 gene product . p53 mutations can function as a dominant negative , meaning that a mutated p53 protein can prevent the function of normal protein from the un mutated allele. ref cite journal author Baker SJ, Markowitz S, Fearon ER, Willson JK, Vogelstein B. title Suppression of human colorectal carcinoma cell growth by wild type p53 journal Science volume 249 iss ... more details
21 ECA21 , and is an incomplete dominancerelationship dominant trait. Incomplete dominant traits differ from dominancerelationship recessive traits , which are only visible in the homozygous state, and simple ... more details
with life so that the affected offspring expires in utero alleles may show incomplete dominance or co dominance see dominancerelationship there are genetic interactions epistasis between alleles of different ... more details
Infobox Disease Name Fahr& 39 s syndrome Image Fahr syndrome.gif Caption Idiopathic Basal Ganglia Calcification DiseasesDB 32200 ICD10 ICD9 ICDO OMIM 213600 MedlinePlus eMedicineSubj eMedicineTopic MeshID Idiopathic Basal Ganglia Calcification , also known as Fahr disease or Fahr s Syndrome is a rare, ref http rarediseases.info.nih.gov GARD Disease.aspx?PageID 4&diseaseID 8272 ref dominance relationship genetically dominant , inherited neurology neurological disorder characterized by abnormal deposits of calcium in areas of the brain that control movement, including the basal ganglia and the cerebral cortex . It is a rare degenerative neurological disorder characterized by calcifications and cell loss within the basal ganglia . ref name JNNP Sign In Page http jnnp.bmj.com cgi content full 75 8 1163 JNNP Sign In Page Bot generated title ref A locus at 14q has been suggested, but no gene has been identified. ref name pmid10441584 cite journal author Geschwind DH, Loginov M, Stern JM title Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification Fahr disease journal Am. J. Hum. Genet. volume 65 issue 3 pages 764 72 year 1999 month September pmid 10441584 pmc 1377984 doi 10.1086 302558 url http linkinghub.elsevier.com retrieve pii S0002 9297 07 62329 5 ref However, basal ganglia calcification can occur as a consequence of other known genetic conditions. History and terminology The disease was first noted by Germany German neurologist Karl Theodor Fahr in 1930. ref T. Fahr Idiopathische Verkalkung der Hirngef sse. Zentralblatt f r allgemeine Pathologie und pathologische Anatomie, 1930 1931, 50 129 133. ref ref http www.whonamedit.com synd.cfm 451.html ref A less common name for the condition is Chavany Brunhes syndrome and Fritsche s syndrome, the former named after Jacques Brunhes , Jean Alfred mile Chavany , while the later named after R. Fritsche . ref http www.whonamedit.com synd.cfm 1518.html ref ref http rarediseases.info.nih.gov GARD ... more details
TOCright Haploinsufficiency occurs when a diploid organism only has a single functional copy of a wild type gene gene with the other copy inactivated by mutation and the single functional copy of the gene does not produce enough of a gene product typically a protein to bring about a wild type condition, leading to an abnormal or diseased state. It is responsible for some but not all autosomal dominant disorders. Haploinsufficiency is therefore an example of incomplete or partial dominance relationship dominance , as a heterozygous heterozygote with one mutant and one normal allele displays a phenotype phenotypic effect. Haploinsufficiency can occur through a number of ways. A mutation in the gene may have erased the production message. One of the two copies of the gene may be missing due to a deletion. The message or protein produced by the cell may be unstable or degraded by the cell. A haploinsufficient gene is described as needing both alleles to be functional in order to express the wild type. A mutation is not haploinsufficient, but dominant mutation By effect on function loss of function mutations are the result of mutations in haploinsufficient genes. The alteration in the gene dosage, which is caused by the loss of a functional allele, is also called allelic insufficiency. An example of this is seen in the case of Williams syndrome , a neurodevelopmental disorder caused by the haploinsufficiency of genes at 7q11.23. The haploinsufficiency is caused by the Copy Number Variation CNV of 28 genes led by the deletion of 1.6 Mb. These dosage sensitive genes are vital for human language and constructive cognition. Another example is the haploinsufficiency of telomerase reverse transcriptase which leads to anticipation in autosomal dominant dyskeratosis congenita. It is a rare inherited disorder characterized by abnormal skin manifestations, which results in bone marrow failure, pulmonary fibrosis and an increased predisposition to cancer. A null mutation in motif D ... more details
Image Tobiano.jpg thumb right 250px A Tobiano patterned Horse Tobiano is a spotted color pattern commonly seen in Pinto horse s, produced by a dominant gene . The tobiano gene produces white haired, pink skinned patches on a base coat color. The coloration is present from birth and does not change throughout the horse s lifetime, unless the horse also carries the gray horse gray gene. see below Other spotting patterns seen in Pinto horses include overo and the sabino horse sabino markings. In the United Kingdom , Tobianos are frequently referred to as Coloured or as Piebald black and white or Skewbald white and any base color other than black . However, Bay horse Bay and white horses are also referred to as Tricoloured horse Tri Coloured . Characteristics Tobiano traits generally include the following White legs from the hocks and knees down White crossing the back between the withers and the dock of the tail White is arranged in a vertical pattern Facial markings are similar to those of a traditionally solid colored horse. i.e. star, snip, strip, or blaze. Extreme white facial markings suggest the presence of additional color pattern genes beyond Tobiano White patches which are usually rounded or oval in shape, rather than jagged see Overo Dark color extending down the neck, giving the appearance of a shield Genetics Tobiano is a dominance relationship dominant gene. ref http www.vgl.ucdavis.edu services coatcolor.php Introduction to Coat Color Genetics from Veterinary Genetics Laboratory, School of Veterinary Medicine, University of California, Davis. Web Site accessed January 12, 2008 ref Therefore, one parent must be a tobiano for the pattern to occur, and the coat pattern will occur with a single copy of the Tobiano gene present i.e. the horse is heterozygous for Tobiano . Furthermore, when a horse is homozygous for Tobiano coloring, all of that horse s offspring will be spotted, with only a few exceptions If either parent passes the dominant gray horse gray ge ... more details
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