Voir la source de Chromosome 1 humain

[[Image:Chromosome 1.svg|droite|200x400px]]

Le '''chromosome 1''' est le plus grand des 23 paires de [[chromosomes humains]]. C'est un des 22 [[autosome]]s. Il est le dernier chromosome à avoir été totalement [[Séquence génétique|séquencé]]. 

== Caractéristiques du chromosome 1 ==
* Nombre de [[Paire de base|paires de base]] : '''{{formatnum:245522847}}'''
* Nombre de [[gène]]s : '''{{formatnum:2281}}'''
* Nombre de gènes connus : '''{{formatnum:1988}}'''
* Nombre de [[Pseudogène|pseudo gènes]] : '''723'''
* Nombre de variations des [[nucléotide]]s (S.N.P ou single nucleotide polymorphism) : '''{{formatnum:738942}}'''

== Anomalies chromosomiques décrites au niveau du chromosome 1 ==
* [[Monosomie 1p36]] : syndrome délétionnel impliquant la région située entre 1p36.13 et 1p36.33.

== Gènes localisés sur le chromosome 1 ==
Le gène [[Système Rhésus|Rhésus]] est présent sur la paire de chromosomes 1, c'est ce gène qui contrôle une partie des caractéristiques du sang ( + ou - ).

== Fonctions du chromosome 1 ==
* Formation du [[cristallin]] de l’[[Œil humain|œil]].
* [[Collagène]].

== 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" class="wikitable" 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
|----
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|----
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|----
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|----
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|----
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|----
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|----
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|----
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|----
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|----
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| q44
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|----
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|----
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|----
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|----
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|----
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|----
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|----
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| q43
| &nbsp;
| &nbsp;
|----
| [[Léiomyomatose familiale et cancer du rein]]
| [[Transmission autosomique dominante|dominante]]
| [https://www.ncbi.nlm.nih.gov/omim/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]]
| [https://www.ncbi.nlm.nih.gov/omim/214500 214500]
| q42.1-q42.2
| [[LYST (Gène)|LYST]]
| &nbsp;
|----
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|----
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|----
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| q41
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|----
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|----
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|----
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|----
| [[Syndrome de Van der Woude]]
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| q32
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|----
| [[Syndrome de la bride poplitée]]
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| q32
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|----
| [[Maladie d'Alzheimer|Maladie d'Alzheimer d'origine génétique]]
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| q31
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|----
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| q31
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|----
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| q25
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|----
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| q24
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|----
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|----
| [[Thrombophilie par mutation du facteur V]]
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| q23
| &nbsp;
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|----
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| q23
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|----
| [[Maladie de Charcot-Marie-Tooth type 2|Maladie de Charcot-Marie-Tooth type 2I]]
| &nbsp;
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| q22
| &nbsp;
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|----
| [[Maladie de Charcot-Marie-Tooth type 2|Maladie de Charcot-Marie-Tooth type 2J]]
| &nbsp;
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| q22
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|----
| [[Maladie de Charcot-Marie-Tooth type 1|Maladie de Charcot-Marie-Tooth type 1B]]
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| q22
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|----
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| q22
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|----
| [[progéria|Syndrome de Hutchison-Gilford progeria]]
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| q21.2
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|----
| [[Dystrophie musculaire d'Emery-Dreifuss]]
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| q21.2
| &nbsp;
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|----
| [[Maladie de Charcot-Marie-Tooth type 2|Maladie de Charcot-Marie-Tooth type 2B1]]
| &nbsp;
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| q21.2
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|----
| [[Maladie de Gaucher]]
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| q21
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|----
| [[Migraine hémiplégique familiale]]
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| q21-q23
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|----
| [[Épilepsie frontale à crises nocturnes]]
| [[Transmission autosomique dominante|Dominante]]
| [https://www.ncbi.nlm.nih.gov/omim/605375  605375]
| &nbsp;
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|----
| [[Dystrophie musculaire des ceintures|Dystrophie musculaire des ceintures type 1B]]
| [[Transmission autosomique dominante|Dominante]]
| &nbsp;
| q21
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|----
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| q21
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| q12
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! colspan="6" style="background-color:#d3d3d3" | Bras court
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| p11
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| p12
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| p13
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|----
| [[Hyperplasie congénitale des surrénales|Hyperplasie congénitale des surrénales par déficit en 3-bêta-hydroxystéroïde déshydrogénase]]
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| p13.1
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| p21
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| p22
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|----
| [[Anémie mégaloblastique thiamine-sensible]]
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| p23.3
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|----
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| p31
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|----
| [[Déficit en transporteur de glucose de type 1]]
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| p31.3
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|----
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| p32
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| p33
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|----
| [[Syndrome Muscle-Eye-Brain]]
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| p33
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|----
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| p34
| &nbsp;
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|----
|[[Surdité d'origine génétique|Surdité non syndromique]]
|[[Transmission autosomique dominante|Dominante]]
| &nbsp;
| p34
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|----
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| p35
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|----
| [[Myopathie congénitale à cores centraux]]
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| p35-p36
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| p36
| &nbsp;
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|----
| [[Nanisme dyssegmentaire|Nanisme dyssegmentaire Type Silverman-Handmaker]]
| &nbsp;
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| p36.1
| &nbsp;
| &nbsp;
|----
| [[Maladie de Hirschsprung]]
| &nbsp;
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| p36.1
| &nbsp;
| &nbsp;
|----
| [[Maladie de Charcot-Marie-Tooth type 2|Maladie de Charcot-Marie-Tooth type 2A]]
| &nbsp;
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| p36.2
| &nbsp;
| &nbsp;
|----
| [[Syndrome d'Ehlers-Danlos type cypho-scoliotique]]
| &nbsp;
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| p36.2-p36.3
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|}

== Les autres chromosomes ==
{{Palette Chromosome humain}}
== Sources ==
* {{en}} '''Ensemble Genome Browser''' [http://www.ensembl.org/]
* {{en}} Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MD.[https://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM]

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[[Catégorie:Chromosome humain|Chromosome 01 humain]]