Chromosome 1 humain 207335 30627976 2008-06-14T10:06:44Z Padawane 19117 /* Sources */ Chromosome 01 humain [[Image:Chromosome 1.svg|right|200x400px]] Le '''chromosome 1''' est le plus grand des 24 [[chromosome]]s [[Homme|humains]]. C'est un des 22 [[autosome]]s. ==Caractéristiques du chromosome 1== * Nombre de [[Paire de base|paires de base]] : '''{{formatnum:245522847}}''' * Nombre de [[gène]]s : '''{{formatnum:2281}}''' * Nombre de [[gène|gènes connus]] : '''{{formatnum:1988}}''' * Nombre de [[gène|pseudo gènes]] : '''723''' * Nombre de variations des [[nucléotide]]s (S.N.P ou single nucleotide polymorphisme) : '''{{formatnum:738942}}''' ==Anomalies chromosomiques décrites au niveau du chromosome 1== ==Gènes localisés sur le chromosome 1== ==Maladies localisées sur le chromosome 1== * 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 1 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 1 |---- 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; | q44 | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | q43 | &nbsp; | &nbsp; |---- | [[Léiomyomatose familiale et cancer du rein]] | [[Transmission autosomique dominante|dominante]] | [http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605839 605839] | q42.1 | [[FH(gène)|FH]] | &nbsp; |---- | [[Acidurie fumarique]] | [[Transmission autosomique récessive|récessive]] | &nbsp; | q42.1 | &nbsp; | &nbsp; |---- | [[Nanisme létal type Greenberg]] | &nbsp; | &nbsp; | q42.1 | &nbsp; | &nbsp; |---- | [[Dysplasie ventriculaire droite arythmogène]] | &nbsp; | &nbsp; | q42.1 | &nbsp; | &nbsp; |---- | [[Syndrome de Chediak Higashi]] | [[Transmission autosomique récessive|récessive]] | [http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=214500 214500] | q42.1-q42.2 | [[LYST (Gène)|LYST]] | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | q41 | &nbsp; | &nbsp; |---- | &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 Van der Woude]] | &nbsp; | &nbsp; | q32 | &nbsp; | &nbsp; |---- | [[Syndrome de la bride poplitée]] | &nbsp; | &nbsp; | q32 | &nbsp; | &nbsp; |---- | [[Maladie d'Alzheimer|Maladie d'Alzheimer d'origine génétique]] | &nbsp; | &nbsp; | q31 | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | q31 | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | q25 | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | q24 | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | [[Thrombophilie par mutation du facteur V]] | &nbsp; | &nbsp; | q23 | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | q23 | &nbsp; | &nbsp; |---- | [[Maladie de Charcot-Marie-Tooth type 2|Maladie de Charcot-Marie-Tooth type 2I]] | &nbsp; | &nbsp; | q22 | &nbsp; | &nbsp; |---- | [[Maladie de Charcot-Marie-Tooth type 2|Maladie de Charcot-Marie-Tooth type 2J]] | &nbsp; | &nbsp; | q22 | &nbsp; | &nbsp; |---- | [[Maladie de Charcot-Marie-Tooth type 1|Maladie de Charcot-Marie-Tooth type 1B]] | &nbsp; | &nbsp; | q22 | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | q22 | &nbsp; | &nbsp; |---- | [[progéria|Syndrome de Hutchison-Gilford progeria]] | &nbsp; | &nbsp; | q21.2 | &nbsp; | &nbsp; |---- | [[Dystrophie musculaire d'Emery-Dreifuss]] | &nbsp; | &nbsp; | q21.2 | &nbsp; | &nbsp; |---- | [[Maladie de Charcot-Marie-Tooth type 2|Maladie de Charcot-Marie-Tooth type 2B1]] | &nbsp; | &nbsp; | q21.2 | &nbsp; | &nbsp; |---- | [[Maladie de Gaucher]] | &nbsp; | &nbsp; | q21 | &nbsp; | &nbsp; |---- | [[Migraine hémiplégique familiale]] | &nbsp; | &nbsp; | q21-q23 | &nbsp; | &nbsp; |---- | [[Épilepsie frontale à crises nocturnes]] | [[Transmission autosomique dominante|Dominante]] | [http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=605375 605375] | &nbsp; | &nbsp; | &nbsp; |---- | [[Dystrophie musculaire des ceintures|Dystrophie musculaire des ceintures type 1B]] | [[Transmission autosomique dominante|Dominante]] | &nbsp; | q21 | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | q21 | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | q12 | &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; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | p13 | &nbsp; | &nbsp; |---- | [[Hyperplasie congénitale des surrénales|Hyperplasie congénitale des surrénales par déficit en 3-bêta-hydroxystéroïde déshydrogénase]] | &nbsp; | &nbsp; | p13.1 | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | p21 | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | p22 | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | [[Anémie mégaloblastique thiamine-sensible]] | &nbsp; | &nbsp; | p23.3 | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | p31 | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | [[Déficit en transporteur de glucose de type 1]] | &nbsp; | &nbsp; | p31.3 | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | p32 | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | p33 | &nbsp; | &nbsp; |---- | [[Syndrome Muscle-Eye-Brain]] | &nbsp; | &nbsp; | p33 | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | p34 | &nbsp; | &nbsp; |---- |[[Surdité d'origine génétique|Surdité non syndromique]] |[[Transmission autosomique dominante|Dominante]] | &nbsp; | p34 | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | p35 | &nbsp; | &nbsp; |---- | [[Myopathie congénitale à cores centraux]] | &nbsp; | &nbsp; | p35-p36 | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | p36 | &nbsp; | &nbsp; |---- | [[Nanisme dyssegmentaire|Nanisme dyssegmentaire Type Silverman-Handmaker]] | &nbsp; | &nbsp; | p36.1 | &nbsp; | &nbsp; |---- | [[Maladie de Hirschsprung]] | &nbsp; | &nbsp; | p36.1 | &nbsp; | &nbsp; |---- | [[Maladie de Charcot-Marie-Tooth type 2|Maladie de Charcot-Marie-Tooth type 2A]] | &nbsp; | &nbsp; | p36.2 | &nbsp; | &nbsp; |---- | [[Syndrome d'Ehlers-Danlos type cypho-scoliotique]] | &nbsp; | &nbsp; | p36.2-p36.3 | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; | &nbsp; |---- | &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|Chromosome 01 humain]] [[ca:Cromosoma 1]] [[de:Chromosom 1 (Mensch)]] [[en:Chromosome 1 (human)]] [[es:Cromosoma 1 (humano)]] [[hu:Humán 1-es kromoszóma]] [[it:Cromosoma 1 (umano)]] [[no:Kromosom 1]] [[pl:Chromosom 1]] [[pt:Cromossoma 1 (humano)]] [[sr:Хромозом 1 (човек)]] [[tr:Kromozom 1]] [[zh:1號染色體 (人類)]]