18番染色体、第18染色体、第18番染色体

WordNet

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）』「2013/07/07 23:05:50」(JST)

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Chromosome 18 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 18 spans about 85 million base pairs (the building material of DNA) and represents about 2.5 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 18 likely contains between 300 and 400 genes.

Genes[edit]

The following are some of the genes located in chromosome 18:

DCC: Deleted in Colorectal Cancer
FECH: ferrochelatase (protoporphyria)
NPC1: Niemann-Pick disease, type C1
SMAD4: SMAD, mothers against DPP homolog 4 (Drosophila)
KC6: Keratoconus gene 6, discovery reported in 2005;

Diseases and disorders[edit]

The following diseases are some of those related to genes on chromosome 18:

Erythropoietic protoporphyria
Hereditary hemorrhagic telangiectasia
Niemann-Pick disease Type C
Porphyria
Selective Mutism
Edwards syndrome (Trisomy 18)
Tetrasomy 18p
Monosomy 18p
Pitt Hopkins Syndrome 18q21

References[edit]

Nusbaum C, Zody MC, Borowsky ML, Kamal M, Kodira CD, Taylor TD, Whittaker CA, Chang JL, Cuomo CA, Dewar K, FitzGerald MG, Yang X, Abouelleil A, Allen NR, Anderson S, Bloom T, Bugalter B, Butler J, Cook A, DeCaprio D, Engels R, Garber M, Gnirke A, Hafez N, Hall JL, Norman CH, Itoh T, Jaffe DB, Kuroki Y, Lehoczky J, Lui A, Macdonald P, Mauceli E, Mikkelsen TS, Naylor JW, Nicol R, Nguyen C, Noguchi H, O'Leary SB, O'Neill K, Piqani B, Smith CL, Talamas JA, Topham K, Totoki Y, Toyoda A, Wain HM, Young SK, Zeng Q, Zimmer AR, Fujiyama A, Hattori M, Birren BW, Sakaki Y, Lander ES (2005). "DNA sequence and analysis of human chromosome 18". Nature 437 (7058): 551–5. doi:10.1038/nature03983. PMID 16177791.
Chen H, Wang N, Huo Y, Sklar P, MacKinnon DF, Potash JB, McMahon FJ, Antonarakis SE, DePaulo JR Jr, Ross CA, McInnis MG (2003). "Trapping and sequence analysis of 1138 putative exons from human chromosome 18". Mol Psychiatry 8 (6): 619–23. doi:10.1038/sj.mp.4001288. PMID 12851638.
Gilbert F (1997). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 18". Genet Test 1 (1): 69–71. PMID 10464628.

External Links[edit]

Chromosome18.org

Chromosome18 Registry And Research Society in Europe.

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UpToDate Contents

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1. ダウン症および18トリソミーに対するスクリーニングのための、妊娠初期における
combined testおよびintegrated test first trimester combined test and integrated tests for screening for down syndrome and trisomy 18
2. 微細欠失症候群（12番～22番染色体） microdeletion syndromes chromosomes 12 to 22
3. 先天性の細胞遺伝学的異常 congenital cytogenetic abnormalities
4. 染色体の転座、欠失、および逆位 chromosomal translocations deletions and inversions
5. 成人におけるフィラデルフィア染色体陽性急性リンパ芽球性白血病に対する導入療法 induction therapy for philadelphia chromosome positive acute lymphoblastic leukemia in adults

English Journal

Pilot study for family-based association analysis of schizophrenia in a Korean population: Analysis for candidate genes positionally on chromosome 18q21.

Cho MJ1,2, Lee BD3,4,2, Kim C5.
Asia-Pacific psychiatry : official journal of the Pacific Rim College of Psychiatrists.Asia Pac Psychiatry.2015 Sep;7(3):268-75. doi: 10.1111/appy.12167. Epub 2014 Dec 12.
INTRODUCTION: Schizophrenia is the most devastating mental illness that causes severe deterioration in social and occupational functioning. This is a pilot study for family-based association analysis of schizophrenia in a Korean population to search candidate genes functionally relevant and position
PMID 25504777

The human brain and face: mechanisms of cranial, neurological and facial development revealed through malformations of holoprosencephaly, cyclopia and aberrations in chromosome 18.

Gondré-Lewis MC1, Gboluaje T1, Reid SN1, Lin S2, Wang P2, Green W3, Diogo R3, Fidélia-Lambert MN4, Herman MM5.
Journal of anatomy.J Anat.2015 Sep;227(3):255-67. doi: 10.1111/joa.12343.
The study of inborn genetic errors can lend insight into mechanisms of normal human development and congenital malformations. Here, we present the first detailed comparison of cranial and neuro pathology in two exceedingly rare human individuals with cyclopia and alobar holoprosencephaly (HPE) in th
PMID 26278930

Two candidate genes for two quantitative trait loci epistatically attenuate hypertension in a novel pathway.

Chauvet C1, Ménard A, Deng AY.
Journal of hypertension.J Hypertens.2015 Sep;33(9):1791-801. doi: 10.1097/HJH.0000000000000626.
OBJECTIVES: Multiple quantitative trait loci (QTLs) for blood pressure (BP) have been detected in rat models of human polygenic hypertension. They influence BP physiologically via epistatic modules. Little is known about the causal genes and virtually nothing is known on modularized mechanisms gover
PMID 26103128

Japanese Journal

Chromosome polymorphism in Rineloricaria pentamaculata (Loricariidae, Siluriformes) of the Parana River basin

PORTO Fernanda Errero,DE PORTELA-CASTRO Ana Luiza Brito,MARTINS-SANTOS Isabel Cristina
Ichthyological research 58(3), 225-231, 2011-07-25
NAID 10029296041

Myelin basic protein as a novel genetic risk factor in rheumatoid arthritis-a genome-wide study combined with immunological analyses.

Terao Chikashi,Ohmura Koichiro,Katayama Masaki,Takahashi Meiko,Kokubo Miki,Diop Gora,Toda Yoshinobu,Yamamoto Natsuki,Human Disease Genomics Working Group,Rheumatoid Arthritis (RA) Clinical and Genetic Study Consortium,Shinkura Reiko,Shimizu Masakazu,Gut Ivo,Heath Simon,Melchers Inga,Manabe Toshiaki,Lathrop Mark,Mimori Tsuneyo,Yamada Ryo,Matsuda Fumihiko
PloS one 6(6), 2011-06
… A novel risk variant, rs2000811, in intron2 of the myelin basic protein (MBP) at chromosome 18q23 showed strong association with RA (p = 2.7×10(-8), OR 1.23, 95% CI: 1.14-1.32). …
NAID 120003184064

BCL2 and MYC Dual-Hit Lymphoma/Leukemia

TOMITA Naoto
Journal of clinical and experimental hematopathology 51(1), 7-12, 2011-05-01
… Translocation of the BCL2 gene on the chromosome band 18q21.3 results in consistent expression of the Bcl2 protein, an apoptosis inhibitor. … BCL2 usually translocates to the immunoglobulin (IG) heavy chain (IGH) gene as t(14;18)(q32;q21.3) and rarely to IG light chain (IGK, IGL) loci as t(2;18)(p11;q21.3) or t(18;22)(q21.3;q11). …
NAID 10028238937