1番染色体 (ヒト)

ヒト1番染色体（ヒトいちばんせんしょくたい）は、ヒトゲノム中に23対ある染色体の内の一対。ヒト染色体の中で一番長く、約2億4895万個（≈249Mbp）の塩基対からなる。父と母から一本ずつ受け継ぎ、合計で二本もつ。ヒトDNA配列全体の約8%を構成する。

**遺伝子**
以下、ヒト1番染色体にある遺伝子のうちのいくらかを列挙する。

**遺伝子数**
ヒト1番染色体に含まれる遺伝子の数は、遺伝子数の定義の違い、および、数え上げる際に使われる方法の違いにより、ソースごとに異なった数値となっている。

**短腕**
短腕（p）上の遺伝子（の一部）- label=ACADM: acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain- label=AHCTF1: encoding protein ELYS- label=AMPD2: encoding enzyme AMP deaminase 2- label=AZIN2: encoding enzyme Antizyme inhibitor 2（AzI2）also known as arginine decarboxylase（ADC）- C1orf103: encoding protein label=Ligand-dependent nuclear receptor-interacting factor 1（LRIF1）- label=COL11A1: collagen, type XI, alpha 1- label=CPT2: carnitine palmitoyltransferase II- label=DBT: dihydrolipoamide branched chain transacylase E2 - label=DIRAS3: DIRAS family, GTP-binding RAS-like 3- label=ESPN: espin（autosomal recessive deafness 36）- GALE: UDP-galactose-4-epimerase- label=GJB3: gap junction protein, beta 3, 31kDa（connexin 31）- HMGCL: 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase（hydroxymethylglutaricaciduria）- label=KCNQ4: potassium voltage-gated channel, KQT-like subfamily, member 4- label=KIF1B: kinesin family member 1B- label=MFN2: mitofusin 2- MTHFR: 5,10-methylenetetrahydrofolate reductase（NADPH）- label=MUTYH: mutY homolog（E. coli）- label=NGF: Nerve Growth Factor- label=PARK7: Parkinson disease（autosomal recessive, early onset）7- label=PINK1: PTEN induced putative kinase 1- PLOD1: procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1- label=TACSTD2: tumour-associated calcium signal transducer 2- TMEM48: encoding protein nucleoporin NDC1- label=TSHB: thyroid stimulating hormone, beta- UROD: uroporphyrinogen decarboxylase（the gene for  label=porphyria cutanea tarda）

**長腕**
長腕（q）上の遺伝子（の一部）- label=ASPM: a brain size determinant- label=ARID4B: encoding protein AT-rich interactive domain-containing protein 4B- CRP: C-reactive protein- label=C1orf21: encoding protein Uncharacterized protein C1orf21- label=C1orf49: encoding protein Uncharacterized protein C1orf49- label=F5: coagulation factor V (proaccelerin, labile factor)- label=FMO3: flavin containing monooxygenase 3- GBA: glucosidase, beta; acid (includes glucosylceramidase) (gene for Gaucher disease)- label=GLC1A: gene for glaucoma- label=HFE2: hemochromatosis type 2 (juvenile)- HPC1: gene for prostate cancer- label=IRF6: gene for connective tissue formation- LMNA: lamin A/C- label=MPZ: myelin protein zero (Charcot–Marie–Tooth neuropathy 1B)- MTR: 5-methyltetrahydrofolate-homocysteine methyltransferase- PPOX: protoporphyrinogen oxidase- label=PSEN2: presenilin 2 (Alzheimer disease 4)- label=SDHB: succinate dehydrogenase complex subunit B - label=TNNT2: cardiac troponin T2- label=USH2A: Usher syndrome 2A (autosomal recessive, mild)

**疾患と疾病**
以下、ヒト1番染色体が関わる疾患、疾病のうちのいくらかを列挙する。- label=1q21.1 deletion syndrome- label=1q21.1 duplication syndrome- アルツハイマー病- Alzheimer disease, type 4- 乳癌- label=Brooke Greenberg Disease (Syndrome X)- label=Carnitine palmitoyltransferase II deficiency- シャルコー・マリー・トゥース病, types 1 and 2- label=collagenopathy, types II and XI- label=congenital hypothyroidism- エーラス・ダンロス症候群- Ehlers-Danlos syndrome, kyphoscoliosis type- label=Factor V Leiden thrombophilia- 家族性大腸腺腫症- ガラクトース血症- ゴーシェ病- Gaucher disease type 1- Gaucher disease type 2- Gaucher disease type 3- Gaucher-like disease- label=Gelatinous drop-like corneal dystrophy- 緑内障- 難聴, autosomal recessive deafness 36- label=Hemochromatosis- Hemochromatosis, type 2- label=Hepatoerythropoietic porphyria- Homocystinuria- Hutchinson Gilford progeria syndrome- label=3-hydroxy-3-methylglutaryl-CoA lyase deficiency- label=Hypertrophic cardiomyopathy, autosomal dominant mutations of TNNT2; hypertrophy usually mild; restrictive phenotype may be present; may carry high risk of sudden cardiac death- maple syrup urine disease- label=medium-chain acyl-coenzyme A dehydrogenase deficiency- label=Microcephaly- label=Muckle-Wells Syndrome- label=Nonsyndromic deafness- label=Nonsyndromic deafness, autosomal dominant- Nonsyndromic deafness, autosomal recessive- label=Oligodendroglioma- パーキンソン病- 褐色細胞腫- ポルフィリン症- label=porphyria cutanea tarda- label=popliteal pterygium syndrome- 前立腺癌- label=Stickler syndrome- Stickler syndrome, COL11A1- label=TAR syndrome- トリメチルアミン尿症- アッシャー症候群- Usher syndrome type II- label=Van der Woude syndrome- label=Variegate porphyria

**染色体バンド**

**参考文献**

**外部リンク**
  ヒトゲノムマップ・1番染色体 - 京都大学大学院・生命科学研究科