12番染色体、第12染色体、第12番染色体

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a threadlike strand of DNA in the cell nucleus that carries the genes in a linear order; "humans have 22 chromosome pairs plus two sex chromosomes"

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染色体

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2013/11/27 12:54:16」(JST)

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Chromosome 12 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 12 spans about 143 million base pairs (the building material of DNA) and represents between 4 and 4.5 percent of the total DNA in cells.

Identifying genes on each chromosome is an active area of genetic research. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. Chromosome 12 likely contains between 1,000 and 1,300 genes. It also contains the Homeobox C gene cluster.

Genes[edit]

The following are some of the genes located on chromosome 12:

ACVRL1: activin A receptor type II-like 1
CBX5: chromobox homolog 5
COL2A1: collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)
HPD: 4-hydroxyphenylpyruvate dioxygenase
KCNA1: potassium voltage-gated channel subfamily A member 1 at 12p13.32
KERA: keratocan
LRRK2: leucine-rich repeat kinase 2
MMAB: methylmalonic aciduria (cobalamin dewrong ficiency) cblB type
MYO1A: myosin IA
NANOG: NK-2 type homeodomain gene
PAH: phenylalanine hydroxylase
PPP1R12A: protein phosphatase 1, regulatory (inhibitor) subungfdit 12A
PTPN11: protein tyrosine phosphatase, non-receptor type 11 (Noonan syndrome 1)
KRAS: V-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog

Diseases & disorders[edit]

The following diseases are some of those related to genes on chromosome 12:

achondrogenesis type 2
collagenopathy, types II and XI
cornea plana 2
episodic ataxia
hereditary hemorrhagic telangiectasia
hypochondrogenesis
ichthyosis bullosa of Siemens
Kniest dysplasia
Kabuki syndrome
maturity onset diabetes of the young type 3
methylmalonic acidemia
narcolepsy
nonsyndromic deafness
nonsyndromic deafness, autosomal dominant
Noonan syndrome
Parkinson disease
Pallister-Killian syndrome (tetrasomy 12p)
phenylketonuria
spondyloepimetaphyseal dysplasia, Strudwick type
spondyloepiphyseal dysplasia congenita
spondyloperipheral dysplasia
Stickler syndrome
Stickler syndrome, COL2A1
Stuttering^[1]
Triose Phosphate Isomerase deficiency
tyrosinemia
Von Willebrand Disease

References[edit]

^ Riaz N; Steinberg S; Ahmad J et al. (April 2005). "Genomewide significant linkage to stuttering on chromosome 12". Am. J. Hum. Genet. 76 (4): 647–51. doi:10.1086/429226. PMC 1199301. PMID 15714404.

Gilbert F, Kauff N (2000). "Disease genes and chromosomes: disease maps of the human genome.Chromosome 12". Genet Test 4 (3): 319–33. doi:10.1089/10906570050501588. PMID 11142767.
Montgomery KT, Lee E, Miller A, Lau S, Shim C, Decker J, Chiu D, Emerling S, Sekhon M, Kim R, Lenz J, Han J, Ioshikhes I, Renault B, Marondel I, Yoon SJ, Song K, Murty VV, Scherer S, Yonescu R, Kirsch IR, Ried T, McPherson J, Gibbs R, Kucherlapati R (2001). "A high-resolution map of human chromosome 12". Nature 409 (6822): 945–6. doi:10.1038/35057174. PMID 11237017.

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