Chromosome 8 humain 251715 27339727 2008-03-13T18:57:10Z Kuebi 193252 +[[de:Chromosom 8 (Mensch)]] [[Image:Chromosome 8.svg|right|200x400px]] Le '''chromosome 8''' est un des 24 [[chromosome|chromosomes humains]]. C'est l'un des 22 [[autosome]]s. ==Caractéristiques du chromosome 8== * Nombre de [[Paire de base|paires de base]] : '''{{formatnum:146274826}}''' * Nombre de [[gène]]s : '''794''' * Nombre de [[gène|gènes connus]] : '''692''' * Nombre de [[gène|pseudo gènes]] : '''364''' * Nombre de variations des [[nucléotide]]s (S.N.P ou single nucleotide polymorphisme): '''{{formatnum:432757}}''' ==Anomalies chromosomiques décrites au niveau du chromosome 8== ==Gènes localisés sur le chromosome 8== ==Maladies localisées sur le chromosome 8== * La nomenclature utilisée pour localiser un [[gène]] est décite dans l'article de celui-ci * Les maladies en rapport avec des anomalies génétiques localisées sur le chromosome 8 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 8 |---- 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; |---- | &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; |---- | [[Syndrome de Rothmund-Thomson]] | [[Transmission autosomique récessive|Récessive]] | [http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=268400 268400] | q24.3 | RECQL4 (Gène)|RECQL4 | &nbsp; |---- | [[Maladie de Charcot-Marie-Tooth|Maladie de Charcot-Marie-Tooth type 4D]] | &nbsp; | &nbsp; | q24.3 | [[NDRG1 (Gène)|NDRG1]] | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | [[Syndrome Tricho-rhino-phalangien type 1]] | [[Transmission autosomique dominante|Dominante]] | [http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190350 190350] | q24.12 | [[TRPS1(Gène)|TRPS1]] | &nbsp; |---- | [[Syndrome Tricho-rhino-phalangien type 2]] | [[Transmission autosomique dominante|Dominante]] | [http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190230 190230] | q24.11-24.13 | [[TRPS1(Gène)|TRPS1]]-[[EXT1(Gène)|EXT1]] | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | q24 | &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; |---- |[[Tétralogie de Fallot]] | |[http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=187500 187500] | q23 | [[ZFPM2 (Gène)|ZFPM2]] | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | q23 | &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; |---- | [[Syndrome de Cohen]] | [[Transmission autosomique récessive|Récessive]] | [http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=216550 216550] | q22-q23 | [[COH1(gène)|COH1]] | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | q22 | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- |[[Hyperplasie congénitale des surrénales]]<br />Déficit en 11-bêta-hydroxylase |[[Transmission autosomique récessive|Récessive]] | &nbsp; | q21 | [[CYP11B1 (Gène)|CYP11B1]] | Cytochrome P450 C11 |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- |[[Syndrome Branchio-Oto-Rénal]] |[[Transmission autosomique dominante|Dominante]] |[http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113650 113650] | q13.3 |[[EYA1 (Gène)|EYA1]] |Eyes absent homolog 1 |---- | [[Ataxie avec déficit isolé en vitamine E]] | [[Transmission autosomique récessive|Récessive]] | [http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=277460 277460] | q13.1-q13.3 | [[TTPA(Gène)|TTPA]] | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | [[Maladie de Charcot-Marie-Tooth|Maladie de Charcot-Marie-Tooth type 4A]] | &nbsp; | &nbsp; | q13 | [[GDAP1 (Gène)|GDAP1]] | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | [[Syndrome CHARGE]] | [[Transmission autosomique dominante|Dominante]] | [http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=214800 214800] | q12.1 | [[CHD7 (gène)|CHD7]] | &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; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | q11 | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &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; | &nbsp; | &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; | p13 | &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; |---- | [[Maladie de Charcot-Marie-Tooth|Maladie de Charcot-Marie-Tooth type 1F]] | &nbsp; | &nbsp; | p21 | [[NEFL (Gène)|NEFL]] | &nbsp; |---- | [[Maladie de Charcot-Marie-Tooth|Maladie de Charcot-Marie-Tooth type 2E]] | &nbsp; | &nbsp; | p21 | [[NEFL (Gène)|NEFL]] | &nbsp; |---- | [[Syndrome de Roberts]] | [http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=268300 268300] | [[Transmission autosomique récessive|Récessive]] | p21.1 | [[ESCO2 (Gène)|ESCO2]] | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | [[Maladie de Farber]] | [http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=228000 228000] | [[Transmission autosomique récessive|Récessive]] | p22-p21.3 | [[ASAH(Gène)|ASAH]] | &nbsp; |---- | [[Déficit familial en lipoprotéine lipase]] | [http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=238600 238600] | [[Transmission autosomique récessive|Récessive]] | p22 | [[LPL (Gène)|LPL]] | &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; |} ==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 8 (Mensch)]] [[en:Chromosome 8 (human)]] [[hu:Humán 8-as kromoszóma]] [[it:Cromosoma 8 (umano)]] [[no:Kromosom 8]] [[pl:Chromosom 8]] [[pt:Cromossoma 8 (humano)]] [[sr:Хромозом 8 (човек)]] [[tr:Kromozom 8]] [[zh:8號染色體 (人類)]]