Chromosome 2 humain 207845 30628128 2008-06-14T10:11:19Z Padawane 19117 /* Sources */ cat [[Image:Chromosome 2.svg|right|200x400px]] Le '''chromosome 2''' est un des 24 [[chromosome|chromosomes humains]]. C'est l'un des 22 [[autosome]]s. ==Caractéristiques du chromosome 2== * Nombre de [[Paire de base|paires de base]] : '''{{formatnum:243018229}}''' * Nombre de [[gène]]s : '''{{formatnum:1482}}''' * Nombre de [[gène|gènes connus]] : '''{{formatnum:1246}}''' * Nombre de [[gène|pseudo gènes]] : '''690''' * Nombre de variations des [[nucléotide]]s (S.N.P ou single nucleotide polymorphisme) : '''{{formatnum:706151}}''' ==Maladies chromosomiques décrites du chromosome 2== ==Gènes localisés sur le chromosome 2== ==Maladies localisées sur le chromosome 2== * La nomenclature utilisée pour localiser un [[gène]] est décrite dans l'article de celui-ci * Les [[maladie]]s en rapport avec des anomalies génétiques localisées sur le chromosome 2 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 2 |---- 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 |---- | &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; |---- | [[Maladie veino-occlusive hépatique avec immunodéficience]] | [[Transmission autosomique récessive|Récessive]] | [http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=235550 235550] | q37.1 | [[SP110 (Gène)|SP110]] | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | q37 | &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; |---- | [[Hyperoxalurie type 1]] | [[Transmission autosomique récessive|Récessive]] | [http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=259900 259900] | q36-q37 | [[AGXT(Gène)|AGXT]] | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | q36 | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | [[Myopathie avec surcharge en desmine]] | [[Transmission autosomique dominante|Dominante]] | [http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601419 601419] | q35 | [[DES (Gène)|DES]] | &nbsp; |---- | [[Dyskinésie non kinésigénique paroxystique]] | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | Q35 | &nbsp; | &nbsp; |---- | [[Syndrome de Waardenburg type 1]] | [[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; | Q34 | &nbsp; | &nbsp; |---- | [[Sclérose latérale primitive]] | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | [[Sclérose latérale amyotrophique juvénile]] | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | [[Paraplégie spastique familiale ascendante à début précoce]] | &nbsp; | &nbsp; | Q33 | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | Q33 | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | Q32 | &nbsp; | &nbsp; |---- | [[Syndrome de Bardet-Biedl]] | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | [[Myopathie tibiale de Udd]] | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | [[Syndrome d'Ehlers-Danlos type classique]] | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | [[Syndrome d'Ehlers-Danlos type vasculaire]] | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | Q31 | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | [[Cholestase intrahépatique familiale progressive à activité gamma-glutamyl-transférase basse]] | [[Transmission autosomique récessive|Récessive]] | [http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=243300 243300] | q24 | [[ABCB11 (Gène)|ABCB11]] | &nbsp; |---- | [[Érythromelalgie primaire familiale]] | [[Transmission autosomique dominante|Dominante]] | [http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=133020 133020] | q24 | [[SCN9A(Gène)|SCN9A]] | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | q24 | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | [[Ataxie paroxystique héréditaire]] | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | Q22 | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | Q21 | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | Q14 | &nbsp; | &nbsp; |---- | [[Syndrome de Joubert]] | &nbsp; | &nbsp; | Q13 | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | Q12 | &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; | P11.2 | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | P12 | &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; | P13 | &nbsp; | &nbsp; |---- | [[Syndrome d'Alström]] | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | [[Dysferlinopathie|Myopathie de Miyoshi]] | &nbsp; | &nbsp; | P13.3 | &nbsp; | &nbsp; |---- | [[Dysferlinopathie|Dystrophie musculaire des ceintures]] | &nbsp; | &nbsp; | P13.3 | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | P14 | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | P15 | &nbsp; | &nbsp; |---- | [[Complexe de Carney]] | &nbsp; | &nbsp; | p16 | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | p16 | &nbsp; | &nbsp; |---- | [[Paraplégie spastique familiale type 4]] | &nbsp; | &nbsp; | P21 | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | P22 | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | P23 | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | P24 | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | P25 | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &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|Chromosome 02 humain]] [[ca:Cromosoma 2]] [[de:Chromosom 2 (Mensch)]] [[en:Chromosome 2 (human)]] [[es:Cromosoma 2 (humano)]] [[hu:Humán 2-es kromoszóma]] [[it:Cromosoma 2 (umano)]] [[no:Kromosom 2]] [[pl:Chromosom 2]] [[pt:Cromossoma 2 (humano)]] [[sr:Хромозом 2 (човек)]] [[tr:Kromozom 2]] [[zh:2號染色體 (人類)]]