About a type of chromosome the ancestral discovery method using autosomal DNA Genealogical DNA test Geographic origin tests An autosome is a chromosome that is not a sex chromosome , or allosome . ref Cite book last Griffiths first Anthony J. F. authorlink Anthony J. F. Griffiths coauthors title An Introduction to genetic analysis year 1999 publisher W.H. Freeman location New York isbn 071673771X pages url http www.ncbi.nlm.nih.gov books bv.fcgi?highlight autosome&rid iga.section.222 ref For example, in human s there are 22 pairs of autosomes and one allosome pair. X chromosome XX and Y chromosome XY are the 23rd chromosome pair which determines sex, female XX or male XY . class wikitable border 1 style width 75 margin 1em auto 1em auto colspan 2 Human chromosomes align center Female XX align center Male XY Image PLoSBiol3.5.Fig7ChromosomesAluFish.jpg 420px center File Human male karyotpe.gif 331px center colspan 2 There are two copies of each autosome chromosomes 1 22 in both females and males. The sex chromosomes are different There are two copies of the X chromosome in females, but males have a single X chromosome and a Y chromosome. See also Autosomal dominant Autosomal recessive Homologous chromosome XY sex determination system References Reflist chromo Chromosomes genetics stub Category Chromosomes Category Cytogenetics ar bs Autozom ca Autosoma cs Autoz m da Autosom de Autosom et Autosoom es Autosoma eo A tosomo eu Autosoma is Samlitningur it Autosoma he kk ht Otoz m lt Autosoma hu Autosz ma nl Autosoom ja no Autosom pl Autosom pt Autossomo ro Autozom ru sl Avtosom sr fi Autosomi sv Autosom th tr Otozomlar uk zh ... more details
Infobox disease Name 2 Methylbutyryl CoA dehydrogenase deficiency Image 2 Methylbutanoyl CoA.png Caption 2 Methylbutyryl CoA DiseasesDB 34413 ICD10 ICD9 ICDO OMIM 610006 MedlinePlus eMedicineSubj eMedicineTopic MeshID 2 Methylbutyryl CoA dehydrogenase deficiency , also called 2 Methylbutyryl glycinuria or short branched chain acyl CoA dehydrogenase deficiency SBCADD , ref name omim OMIM 610006 2 Methylbutyryl CoA dehydrogenase deficiency ref is an autosome autosomal dominance genetics recessive inborn errors of metabolism metabolic disorder . ref name aur07 cite pmid 17883863 ref It causes the body to be unable to process the amino acid isoleucine properly. Signs and symptoms Untreated SBCADD can lead to progressive loss of motor skills , mental retardation and epilepsy . Citation needed date April 2011 Cause and genetics Image Autorecessive.jpg thumb right 2 Methylbutyryl CoA dehydrogenase deficiency has an autosomal recessive pattern of inheritance. The disorder is caused by a mutation in the ACADSB gene , located on the long arm of human chromosome 10 human chromosome 10 10q25 q26 . ref name omim ref cite pmid 17945527 ref It is inherited in an autosomal recessive manner. ref name aur07 This means the defective gene responsible for the disorder is located on an autosome chromosome 10 is an autosome , and two copies of the defective gene one inherited from each parent are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both genetic carrier carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder. References reflist External links http www.wadsworth.org newborn babhealth.htm Short descriptions of genetic disorders from wadsworth.org Amino acid metabolic pathology Category Amino acid metabolism disorders Category Autosomal recessive disorders Genetic disorder stub ... more details
Infobox Disease Name Papillorenal syndrome Image Caption DiseasesDB 32086 ICD10 ICD9 ICDO OMIM 120330 MedlinePlus eMedicineSubj eMedicineTopic MeshID Papillorenal syndrome , also called Renal coloboma syndrome or isolated renal hypoplasia , ref name omim OMIM 120330 ref is an autosome autosomal Dominance genetics dominant ref name prad cite pmid 11241473 ref genetic disorder marked by underdevelopment hypoplasia of the kidney and coloboma s of the optic nerve . Cause and Genetics Image autodominant.jpg thumb right PAGENAME has an autosomal dominant pattern of heredity inheritance . Papillorenal syndrome is an autosomal dominant disorder that results from a mutation of one copy of the Pax genes PAX2 gene , located on chromosome chromosome 10 human 10q24.3 q25.1 . ref name prad ref OMIM 167409 ref The gene is important in the development of both the eye and the kidney. Autosomal dominant inheritance indicates that the gene responsible for the disorder is located on an autosome chromosome 10 is an autosome , and only one defective copy of the gene is sufficient to cause the disorder, when inherited from a parent who has the disorder. References reflist External links http www.ncbi.nlm.nih.gov bookshelf br.fcgi?book gene&part papr GeneReview NCBI NIH UW entry on Renal Coloboma Syndrome RareDiseases 4106 Papillorenal syndrome Congenital malformations of urinary system Transcription factor coregulator deficiencies Category Kidney diseases Category Congenital disorders of urinary system Category Autosomal dominant disorders Category Syndromes Category Transcription factor deficiencies Category Article Feedback 5 Genetic disorder stub ... more details
Infobox Disease Name Gillespie syndrome Image Caption DiseasesDB 32735 ICD10 ICD9 ICDO OMIM 206700 MedlinePlus eMedicineSubj eMedicineTopic MeshID Gillespie syndrome , also called aniridia, cerebellar ataxia and mental deficiency and Gillespie s syndrome II , ref name omim OMIM 206700 ref ref name s2006 WhoNamedIt synd 2006 ref is a rare genetic disorder . The disorder is characterized by partial aniridia meaning that part of the Iris anatomy iris is missing , ataxia motor and coordination problems , and, in most cases, intellectual disability . It is heterogeneity Genetics heterogeneous , inherited in either an autosome autosomal dominance genetics dominant or autosomal dominance genetics recessive manner. ref name gsaut cite pmid 17287663 ref Gillespie syndrome was first described by American ophthalmologist Fredrick Gillespie in 1965. ref name s2006 Genetics double image right Autodominant.jpg 150 Autorecessive.jpg 150 Gillespie syndrome can be inherited in either an autosomal dominant left or autosomal recessive right pattern. Gillespie syndrome is a heterogeneous disorder, and can be inherited in either an autosomal dominant or recessive manner. ref name gsaut Autosomal dominant inheritance indicates that the defective gene responsible for a disorder is located on an autosome , and only one copy of the gene is sufficient to cause the disorder, when inherited from a parent who has the disorder. Autosomal recessive inheritance means the defective gene responsible for the disorder is located on an autosome, but two copies of the defective gene one inherited from each parent are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both genetic carrier carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder. Some forms are associated with PAX6 . ref OMIM 206700 ref References reflist External links http www.socialstyrelsen.se en rarediseases Gillespie syndr ... more details
refimprove date June 2010 Infobox Disease Name PAGENAME Image Caption DiseasesDB 32116 ICD10 ICD9 ICDO OMIM 156250 MedlinePlus eMedicineSubj eMedicineTopic MeshID Metachondromatosis is an autosome autosomal dominance genetics dominant ref name mad cite pmid 6602353 ref skeletal disorder affecting the growth of bone s, leading to multiple enchondromas and osteochondromas. Affects mainly tubular bones, though can involve the vertebrae. Genetics Image Autodominant.jpg thumb left Metachondromatosis has an autosomal dominant pattern of heredity inheritance . Metachondromatosis is inherited in an autosomal dominant manner. ref name mad This means that the defective gene responsible for a disorder is located on an autosome , and only one copy of the gene is sufficient to cause the disorder, when inherited from a parent who has the disorder. It has been associated with PTPN11 . ref name pmid20577567 cite journal author Sobreira NL, Cirulli ET, Avramopoulos D, et al. title Whole genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene journal PLoS Genet. volume 6 issue 6 pages e1000991 year 2010 pmid 20577567 pmc 2887469 doi 10.1371 journal.pgen.1000991 url http dx.plos.org 10.1371 journal.pgen.1000991 ref References reflist Deficiencies of intracellular signaling peptides and proteins Category Skeletal disorders Category Autosomal dominant disorders Category Rare diseases Category Enzyme defects Genetic disorder stub ... more details
Infobox Disease Name GAPO syndrome Image Caption DiseasesDB ICD10 ICD9 ICDO OMIM 230740 MedlinePlus eMedicineSubj eMedicineTopic MeshID GAPO syndrome is a rare, autosome autosomal dominance genetics recessive genetic disorder. ref name omim OMIM 230740 ref GAPO is an acronym for growth retardation , alopecia , pseudoanodontia failure of tooth eruption , and progressive optic atrophy . Genetics Image Autorecessive.jpg thumb right GAPO syndrome has an autosomal recessive pattern of inheritance . GAPO syndrome is inherited in an autosomal recessive manner. ref name omim This means the defective gene responsible for the disorder is located on an autosome , and two copies of the defective gene one inherited from each parent are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both genetic carrier carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder. References reflist External links RareDiseases 400 GAPO syndrome Category Autosomal recessive disorders Category Rare diseases Category Syndromes Category Genetic disorders with OMIM but no gene Genetic disorder stub ... more details
expert subject Genetics date May 2008 unreferenced date May 2008 The X A ratio is the ratio between the X chromosome and the number of sets of autosome s in an organism . This ratio is used primarily for determining sex of drosophila flies. Generally, a 1 1 ratio results in a female and a 1 2 ratio results in a male. When calculating the ratio, Y chromosomes are ignored. For example, for a triploid drosophila that has XXX, the ratio is 1 1 3 Xs to 3 autosomes, since it is a triploid . For a diploid drosophila that has XY, the ratio is 1 2 1 X to 2 autosomes, since it is diploid . Category Genetics ... more details
Infobox Disease Name PAGENAME Image Caption DiseasesDB ICD10 ICD9 ICDO OMIM 203100 MedlinePlus eMedicineSubj eMedicineTopic MeshID Oculocutaneous Albinism Type I or &ndash Type 1A OCA1A ref name omim OMIM 203100 ref is an autosome autosomal dominance genetics recessive skin disease associated with albinism . This type of albinism is caused when the gene OCA1 gene OCA1 does not function properly. The Locus genetics location of OCA1 may be written as 11q1.4 q2.1 , meaning it is on the long arm of chromosome chromosome 11 human 11 , somewhere in the range of sub band 4 of band 1, and sub band 1 of band 2. References reflist genetic disorder stub Category Autosomal recessive disorders ... more details
refimprove date January 2010 Infobox Disease Name Berdon syndrome Image Caption DiseasesDB 32131 ICD10 ICD9 ICDO OMIM 249210 MedlinePlus eMedicineSubj eMedicineTopic MeshID Berdon syndrome , also called Megacystis microcolon intestinal hypoperistalsis syndrome MMIH syndrome , ref name omim OMIM 249210 ref is an autosome autosomal dominance genetics recessive ref name bsaur cite pmid 1785644 ref genetic disorder affecting newborns. It is more prevalent in females, and is characterized by constipation and urinary retention, microcolon, giant Urinary bladder bladder megacystis , intestinal hypoperistalis, hydronephrosis , and dilated small bowel . The pathological findings consist of an abundance of ganglion cells in both dilated and narrow areas of the intestine . It is a familial disturbance of unknown etiology medicine aetiology . Walter Berdon et al. in 1976 first described the condition in five female infants, two of whom were sisters. All had marked dilatation of the bladder and some had hydronephrosis and the external appearance of prune belly syndrome prune belly . The infants also had microcolon and dilated small intestines . Genetics Image Autorecessive.svg thumb right Berdon syndrome has an autosomal recessive pattern of inheritance . Berdon syndrome is recessive gene autosomal recessive , which means the defective gene is located on an autosome , and two copies of the gene one inherited from each parent are required to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but are usually not affected by the disorder. References reflist External links RareDiseases 3442 Megacystis microcolon intestinal hypoperistalsis syndrome OMIM 249210 Megacystis microcolon intestinal hypoperistalsis syndrome MMIH syndrome Berdon syndrome http www.pedrad.org displaycommon.cfm?an 1&subarticlenbr 54 Walter E. Berdon Awards Category Pediatrics Category Autosomal recessive disorders Category Synd ... more details
Refimprove date July 2008 Infobox Disease Name Hyperlysinemia Image L lysine skeletal.png Caption lysine DiseasesDB 33215 ICD10 ICD9 ICD9 270.7 ICDO OMIM 238700 MedlinePlus eMedicineSubj eMedicineTopic MeshID D020167 Hyperlysinemia is an autosome autosomal dominance genetics recessive ref name har cite journal pmid 10775527 year 2000 month June author Sacksteder KA, Bier BJ, Morrell JC, Goodman BK, Geisbrecht BV, Cox RP, Gould SJ, Geraghty MT title Identification of the alpha aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia volume 66 issue 6 pages 1736 1743 pmc 1378037 doi 10.1086 302919 journal American journal of human genetics ref metabolic disorder characterized by an abnormal increase of lysine in the blood , but appears to be benign. It can be associated with saccharopine dehydrogenase . Genetics Image Autorecessive.jpg thumb left Hyperlysinemia has an autosomal recessive pattern of inheritance . Hyperlysinemia is inherited in an autosomal recessive manner. ref name har This means the defective gene responsible for the disorder is located on an autosome , and two copies of the defective gene one inherited from each parent are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both genetic carrier carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder. See also Lysinuria Saccharopinuria References reflist Amino acid metabolic pathology Category Amino acid metabolism disorders Category Autosomal recessive disorders genetic disorder stub ... more details
refimprove date December 2009 Infobox Disease Name Behr syndrome Image Caption DiseasesDB 32611 ICD10 ICD9 ICDO OMIM 210000 MedlinePlus eMedicineSubj eMedicineTopic MeshID Behr syndrome is an autosome autosomal dominance genetics recessive genetic disorder named after Carl Behr , who first described it in 1909. ref WhoNamedIt synd 3048 ref ref cite journal author Behr C title Die komplizierte, heredit r famili re Optikusatrophie des Kindesalters ein bisher nicht beschriebener Symptomkompleks. journal Klinische Monatsbl tter f r Augenheilkunde volume 47 issue pages 138 60 year 1909 ref Although it is an autosomal recessive disorder, heterozygote s may still manifest much attenuated symptoms. Diagnosis Behr syndrome results in a spectrum of optic and neurological complications for both sexes. The disorder begins from early childhood with disturbance to vision, and loss or reduction in body control and co ordination. It includes a partial and increasing loss of vision, and or blind spot vision blind spot s. Eyesight degeneration is particularly prevalent in males. Symptom s can also include rapid involuntary eye movements Pathologic nystagmus nystagmus , ataxia , progressive damage to nerves, nerve inflammation , mental retardation, urinary incontinence, and unusual foot reflexes when the sole is stimulated positive Babinski sign . Genetics Image Autorecessive.svg thumb right Behr syndrome has an autosomal recessive pattern of inheritance . Behr syndrome is recessive gene autosomal recessive , which means the defective gene is located on an autosome , and two copies of the gene one inherited from each parent are required to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but are usually not affected by the disorder. See also List of systemic diseases with ocular manifestations References reflist External links RareDiseases 849 Behr syndrome DEFAULTSORT Behr Syndrome Category Autosom ... more details
Infobox disease Name Arakawa s syndrome II Image Mecobalamin.svg Caption methylcobalamin DiseasesDB 32787 ICD10 ICD9 ICDO OMIM 156570 MedlinePlus eMedicineSubj eMedicineTopic Arakawa s syndrome II ref name wni is an autosome autosomal dominance genetics dominant inborn error of metabolism metabolic disorder that causes a deficiency of the enzyme tetrahydrofolate methyltransferase affected individuals cannot properly metabolize methylcobalamin , a type of Cyanocobalamin Vitamin B sub 12 sub . It is also called Methionine synthase deficiency , Tetrahydrofolate methyltransferase deficiency syndrome , and N5 methylhomocysteine transferase deficiency . ref name omim OMIM 156570 ref Characteristics This disorder causes Neurology neurological problems, including mental retardation , brain atrophy and Ventricular system ventricular dilation, myoclonus , hypotonia , and epilepsy . It is also associated with Delayed milestone growth retardation , megaloblastic anemia , pectus excavatum , scoliosis , vomiting , diarrhea , and hepatosplenomegaly . Genetics Image Autodominant.jpg thumb right Arakawa& 39 s syndrome II has an autosomal dominant pattern of heredity inheritance . Arakawa s syndrome II is inherited in an autosomal dominant manner. This means the defective gene responsible for 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 has the disorder. Eponym It is called Arakawa syndrome 2 after Tsuneo Arakawa ref name wni WhoNamedIt synd 235 ref ref cite journal author Arakawa T, et al. title Megaloblastic anemia and mental retardation associated with hyperfolic acidemia probably due to N5 methyltetrahydrofolate transferase deficiency journal Tohoku J. Exp. Med. volume 93 issue 1 pages 1 22 year 1967 pmid 5300832 doi 10.1620 tjem.93.1 ref in this context, Arakawa syndrome 1 refers to Glutamate formiminotransferase deficiency. References reflist External links RareDiseases 8265 Arakawa ... more details
Infobox Disease Name Upington disease Image Caption DiseasesDB ICD10 ICD10 M 91 8 m 90 ICD9 ICD9 xxx ICDO OMIM 191520 MedlinePlus eMedicineSubj eMedicineTopic MeshID Upington disease , also called Perthes like hip disease, enchondromata and ecchondromata , ref name omim OMIM 191520 ref is an extremely rare ref RareDiseases 5421 ref autosome autosomal dominance genetics dominant ref name uad congenital disorder malformation disorder having only one published source claiming its existence on one family in three generations from South Africa . ref name uad cite journal author Schweitzer G, Jones B, Timme A title Upington disease a familial dyschondroplasia journal S. Afr. Med. J. volume 45 issue 36 pages 994&ndash 1000 year 1971 pmid 5316541 ref Characteristics The disease is characterized by Hip dysplasia human Perthes like pelvic anomalies premature closure of the capital femoral epiphyses and widened Upper extremity of femur femoral neck s with flattened femoral heads , enchondromata and ecchondromata . Genetics Image autodominant.jpg thumb right PAGENAME has an autosomal dominant pattern of inheritance. Upington disease is inherited in an autosomal dominant manner. ref name uad ref http www.orpha.net consor cgi bin OC Exp.php?Lng GB&Expert 3408 ORPHANET About rare diseases About orphan drugs Bot generated title ref This means the defective gene is located on an autosome , and one copy of the defective gene is sufficient to cause the disorder, when inherited from a parent who has the disorder. Eponym The name Upington refers to the district of Cape Province , South Africa from where the family originates. ref name omim References reflist Congenital malformations and deformations of musculoskeletal system Category Rare diseases Category Congenital disorders of musculoskeletal system Category Autosomal dominant disorders Category Genetic disorders with OMIM but no gene disease stub genetic disorder stub ... 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
Infobox Disease Name Nakajo syndrome Image Caption DiseasesDB ICD10 ICD9 ICDO OMIM 256040 MedlinePlus eMedicineSubj eMedicineTopic MeshID Nakajo syndrome , also called nodular erythema with digital changes , ref name omim is a rare autosome autosomal dominance genetics recessive congenital disorder first reported in 1939 by A. Nakajo in the offspring of consanguineous blood relative parents. ref cite journal author Nakajo A title Secondary hypertrophic osteoperiostosis with pernio language Japanese journal J Derm Venerol. volume 45 pages 77 86 year 1939 ref ref name nsar cite pmid 4026345 ref The syndrome can be characterized by erythema reddened skin , loss of adipose tissue body fat in the upper part of the body, and disproportionately large eyes, ears, nose, lips, and fingers. ref name omim OMIM 256040 Nakajo syndrome ref Genetics Image Autorecessive.jpg thumb right Nakajo syndrome has an autosomal recessive pattern of inheritance . Nakajo syndrome is inherited in an autosomal recessive manner. ref name nsar This means the defective gene responsible for the disorder is located on an autosome , and two copies of the defective gene one inherited from each parent are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both genetic carrier carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder. References reflist Category Autosomal recessive disorders Category Congenital disorders Category Rare diseases Category Syndromes Category Genetic disorders with OMIM but no gene genetic disorder stub ... more details
Refimprove date August 2010 Infobox disease Name Saccharopinuria Image Saccharopine.svg Caption Saccharopine Width 125px DiseasesDB ICD10 ICD9 ICD9 270.7 ICDO OMIM 268700 MedlinePlus eMedicineSubj eMedicineTopic MeshID Saccharopinuria an excess of saccharopine in the urine , also called saccharopinemia , saccharopine dehydrogenase deficiency or alpha aminoadipic semialdehyde synthase deficiency , ref name omim OMIM 268700 ref is a variant form of hyperlysinemia . ref cite pmid 9590025 ref It is caused by a partial deficiency of the enzyme saccharopine dehydrogenase , which plays a secondary role in the lysine metabolic pathway. Inheritance is thought to be autosome autosomal dominance genetics recessive , but this cannot be established as individuals affected by saccharopinuria typically have only a 40 reduction in functional enzyme. ref name omim See also Hyperlysinemia References reflist External links RareDiseases 314 Saccharopinuria Alpha aminoadipic semialdehyde synthase deficiency Amino acid metabolic pathology Category Amino acid metabolism disorders Category Rare diseases genetic disorder stub ... more details
An allosome is a sex chromosome that differs from an ordinary autosome in form, size, or behavior. The human sex chromosome s are a typical pair of allosomes. The x chromosome is present in the ovum, while x or y chromosomes can be present in sperm. The chromosomes which determine the sex maleness or femaleness of an individual in sexually producing organisms are called sex chromosomes or allosomes or idiosomes. For example in human beings an individual is female if its cells contain XX chromosomes homo or isogametic and male if its cells contains XY chromosomes hetrogametic References http hal.wzw.tum.de genglos asp genreq.asp?nr 590 Hypermedia Glossary Of Genetic Terms Allosome Category Chromosomes genetics stub als Geschlechtschromosom cs Pohlavn chromozom da K nskromosom de Geschlechtschromosom et Gonosoom fr Gonosome hu Gonosz ma mk ja no Kj nnskromosom pl Chromosomy p ci pt Cromossomo sexual ro Heterozom ru sr fi Sukupuolikromosomi sv K nskromosom tr E ey kromozomlar zh ... more details
OmniPop is a program used to class populations by Autosome autosomal DNA results. It is a Microsoft Excel file and requires Excel to run. The program is recognized and used by National Institute of Standards and Technology NIST for the purpose of clustering autosomal markers and is also suggested by commercial genealogical genetics companies to their customers for use in understanding their results. ref http www.familytreedna.com autosomal description.html Understanding your results , FamilyTreeDNA ref Dead link References reflist External links http www.cstl.nist.gov div831 strbase population OmniPop200.1.xls Download OmniPop version 200.1 http www.cstl.nist.gov biotech strbase populationdata.htm NIST page linking to current version of OmniPop http www.dna fingerprint.com modules.php?op modload&name Downloads&file index&req getit&lid 51 Download OmniPop version 150.5 http users.telenet.be callmewimpy dnatools.htm Download page for other .xls DNA programs Several Y chromosomal STR age predictor programs http dna forums.org index.php?showtopic 343&st 0&start 0 Category Population genetics Category Genetic genealogy Category Spreadsheet software de OmniPop ... more details
Orphan date February 2009 Primarysources date December 2007 Ecogenetics is the branch of genetics that studies how inherited or acquired genetic factors influence human susceptibility to environmental health risks. It studies the genetic basis of environmental toxicity to develop methods for the detection, prevention and control of environmentally related disease. Ecogenetics interacts with ecology , molecular genetics , toxicology , public health medicine, and environmental epidemiology . Ecogenetic diseases An intermediate bw monogenic and poly genic because they are relatively rare as monogenic but have very strong environmental influence as polygenic. Malignant Hyperthermia An autosome autosomal dominant disease, a mutation in rayamodine receptor in the sarcoplasmic er. Features High fever which is induce by anastatics as halothane , succinylchline. G6PD deficiency favism An x linked recessive disorder affecting mainly men, but can affect women due to X inactivation Features hemolytic shock, Naphthalene balls , broad bean. Acute intermidated porpliria Autosomal dominant Symptoms periods interrupted by acute symptomes periods Triggers alcohol , steroid , infection Category Genetics ... more details
Infobox Disease Name Fukuyama congenital muscular dystrophy Image Caption DiseasesDB 31555 ICD10 ICD9 ICDO OMIM 253800 MedlinePlus eMedicineSubj eMedicineTopic MeshID Fukuyama congenital muscular dystrophy FCMD is a rare, autosome autosomal dominance genetics recessive form of muscular dystrophy weakness and breakdown of muscular tissue mainly described in Japan . ref name omim OMIM 253800 ref Fifteen cases were first described in 1960 by Fukuyama. ref cite journal author Fukuyama Y, Kawazura M, Haruna, H title A peculiar form of congenital progressive muscular dystrophy journal Paediat. Univ. Tokyo volume 4 issue pages 5 8 year 1960 ref In 1995, the disorder was linked to mutations in a gene coding for the protein fukutin the FCMD gene . ref name pmid7818265 cite journal author Toda T, Yoshioka M, Nakahori Y, Kanazawa I, Nakamura Y, Nakagome Y title Genetic identity of Fukuyama type congenital muscular dystrophy and Walker Warburg syndrome journal Ann. Neurol. volume 37 issue 1 pages 99 101 year 1995 pmid 7818265 doi 10.1002 ana.410370118 ref Cause and Genetics Image Autorecessive.jpg thumb left Fukuyama congenital muscular dystrophy has an autosomal recessive pattern of inheritance . Mutations in the fukutin gene, located at human chromosome chromosome 9 human 9q31 , are the cause of FCMD. ref name pmid7818265 ref OMIM 607440 ref The disease is inherited in an autosomal recessive manner. ref name omim This means the defective gene responsible for the disorder is located on an autosome chromosome 9 is an autosome , and two copies of the defective gene one inherited from each parent are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both genetic carrier carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder. References reflist External links RareDiseases 6475 Fukuyama type muscular dystrophy http www.ncbi.nlm.nih.gov bookshelf br.fcgi?book gene&part ... more details
refimprove date August 2010 Infobox Disease Name PAGENAME Image Caption DiseasesDB 29331 ICD10 ICD9 ICDO OMIM 101400 MedlinePlus eMedicineSubj eMedicineTopic MeshID D000168 Saethre Chotzen syndrome SCS , also known as acrocephalosyndactyly type 3 ACS III and Chotzen syndrome , ref name omim OMIM 101400 ref is a very rare autosome autosomal dominance genetics dominant ref name scad cite doi 10.1038.2Fsj.ejhg.5201507 ref congenital disorder characterized by acrocephalosyndactyly , craniosynostosis premature closure of one or more of the sutures between the bones of the Human skull skull . It is caused by mutations in the TWIST transcription factor TWIST gene. ref name scad ref name two OMIM 601622 ref Characteristics Classic features include synostosis of the coronal suture s of the skull resulting in characteristic face s including ptosis eyelid ptosis , facial asymmetry and small ears syndactyly of the fingers, particularly of the second and third digits Intelligence is usually normal. Some affected individuals may have mild to moderate mental retardation . Cause and genetics Image Autodominant.jpg thumb right Saethre Chotzen syndrome has an autosomal dominant pattern of inheritance. SCS is caused by a mutation in the TWIST gene, located on human chromosome chromosome 7 human 7p21 . ref name scad ref name two Autosomal dominant inheritance indicates that the defective gene responsible for a disorder is located on an autosome chromosome 7 is an autosome , and only one copy of the gene is sufficient to cause the disorder, when inherited from a parent who has the disorder. Epidemiology The incidence of this rare syndrome is estimated at between 1 in 25,000&ndash 50,000 live births. Eponym It is named after Haakon Saethre, a prominent Norwegian neuropsychiatrist, and F. Chotzen, a German psychiatrist, who described the syndrome in 1931 and 1932, respectively. See also Acrocephalosyndactylia References reflist External links http www.sfh lab.com Saethre.htm Article on SC ... more details
Encyclopedia
top
