Chromosome 19 humain 251733 29053524 2008-04-28T02:05:15Z Alexbot 327431 robot Ajoute: [[pl:Chromosom 19]] [[Image:Chromosome 19.svg|right]] Le '''chromosome 19''' est un des 23 [[chromosome|chromosomes humains]]. C'est l'un des 22 [[autosome]]s. ==Caractéristiques du chromosome 19== * Nombre de [[Paire de base|paires de base]] : '''{{formatnum:63811651}}''' * Nombre de [[gène]]s : '''{{formatnum:1468}}''' * Nombre de [[gène|gènes connus]] : '''{{formatnum:1337}}''' * Nombre de [[gène|pseudo gènes]] : '''164''' * Nombre de variations des [[nucléotide]]s (S.N.P ou single nucleotide polymorphisme) : '''{{formatnum:186986}}''' ==Gènes localisés sur le chromosome 19== ==Maladies localisées sur le chromosome 19== * La nomenclature utilisée pour localiser un [[gène]] est décrite dans l'article de celui-ci * Les maladies en rapport avec des anomalies génétiques localisées sur le chromosome 19 sont : <br /> {| width="100%" border="1" cellpadding="4" cellspacing="0" style="page-break-before: always; page-break-inside: avoid" ! colspan="6" style="background-color:#b3b3b3" | Maladies localisées sur le chromosome 19 |---- style="background-color:#b3b3b3" | width="37%" | Pathologie | width="10%" | Transmission | width="9%" | O.M.I.M | width="4%" | Locus | width="10%" | Gène | width="30%" | Protéine codée par le gène |---- ! colspan="6" style="background-color:#d3d3d3" | Bras long |---- |[[Neuroferritinopathie]] |[[Transmission autosomique dominante|Dominante]] |[http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606157 606157] |Q13.3 | | |---- |[[Mucolipidose type 4]] |[[Transmission autosomique récessive|Récessive]] |[http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=252650 252650] |Q13.3 | | |---- |[[Dystrophie musculaire des ceintures|Dystrophie musculaire des ceintures Type 2I]] |[[Transmission autosomique récessive|Récessive]] |[http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607155 607155 ] |Q13.3 |FKRP |Fukutine |---- | [[Dystrophie myotonique de Steinert]] | [[Transmission autosomique dominante|Dominante]] | &nbsp; | Q13.2 | &nbsp; | &nbsp; |---- | [[Anémie de Blackfan-Diamond]] | [[Transmission autosomique dominante|Dominante]] | [http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=105650 105650] | Q13.2 | &nbsp; | &nbsp; |---- | [[Acidurie 3-méthylglutaconique type 3]] | [[Transmission autosomique récessive|Récessive]] | [http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=258501 258501] | 13.2-q13.3 | [[OPA3(gène)|OPA3]] | &nbsp; |---- | [[Maladie de Charcot-Marie-Tooth type 4|Maladie de Charcot-Marie-Tooth type 4F]] | &nbsp; | &nbsp; | Q13.1 | &nbsp; | &nbsp; |---- |[[Maladie du sirop d'érable]] |[[Transmission autosomique récessive|Récessive]] |[http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=248600 248600] |Q13.1-Q13.2 | &nbsp; | &nbsp; |---- |[[Myopathie congénitale à cores centraux]] |[[Transmission autosomique dominante|Dominante]] |[http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118800 118800] | Q13.1 | &nbsp; | &nbsp; |---- | [[Maladie de Nasu-Hakola]] | [[Transmission autosomique récessive|Récessive]] | &nbsp; | q13.1 | &nbsp; | &nbsp; |---- | [[Syndrome de Camurati-Engelmann]] | [[Transmission autosomique dominante|Dominante]] | [http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131300 131300] | q13.1 | [[TGFB1 (Gène)|TGFB1]] | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | [[Hyperthermie maligne]] | [[Transmission autosomique dominante|Dominante]] | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | [[Maladie de Charcot-Marie-Tooth type 2|Maladie de Charcot-Marie-Tooth type 2B]] | &nbsp; | &nbsp; | Q13 | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | Q13 | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | Q13 | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | [[Alpha-mannosidose]] | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | Q12 | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | Q11 | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | Q11 | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- ! colspan="6" style="background-color:#d3d3d3" | Bras court |---- | &nbsp; | &nbsp; | &nbsp; | P11 | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | P12 | &nbsp; | &nbsp; |---- | [[Pseudo achondroplasie]] | [[Transmission autosomique dominante|Dominante]] | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | P13 | &nbsp; | &nbsp; |---- | [[Ataxie paroxystique héréditaire]] | [[Transmission autosomique dominante|Dominante]] | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | [[Ataxie cérébelleuse type 6]] | [[Transmission autosomique dominante|Dominante]] | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | [[Migraine hémiplégique familiale|Migraine hémiplégique familiale type 1]] | [[Transmission autosomique dominante|Dominante]] | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | [[Maladie de Hirschsprung]] | &nbsp; | &nbsp; | P13.3 | &nbsp; | &nbsp; |---- | [[Neutropénie par mutation du gène ELA2]] | [[Transmission autosomique dominante|Dominante]] | [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162800 162800] | p13.3 | [[ELA2 (Gène)|ELA2]] | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |} ==Les autres chromosomes== {{Chromosome humain}} ==Sources== * {{en}} '''Ensemble Genome Browser''' [http://www.ensembl.org/] * {{en}} Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MD.[http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM] {{portail médecine}} [[Catégorie:chromosome humain]] [[de:Chromosom 19 (Mensch)]] [[en:Chromosome 19 (human)]] [[es:Cromosoma 19 (humano)]] [[hu:Humán 19-es kromoszóma]] [[it:Cromosoma 19 (umano)]] [[no:Kromosom 19]] [[pl:Chromosom 19]] [[pt:Cromossoma 19 (humano)]] [[sr:Хромозом 19 (човек)]] [[tr:Kromozom 19]] [[zh:19號染色體 (人類)]]