21号染色体
| 21号染色体 | |
|---|---|
 | |
| 物种 | Homo sapiens |
| 基因数量 | 200-400 |
人类的21号染色体是23对染色体的其中之一，正常状况下每个细胞拥有两条。此染色体是所有人类染色体中最小的一个，含有大约4700万个碱基对，占细胞内所有DNA的1.5%。
21号染色体的定序是在2000年宣布完成，是人类基因组计画中第二条定序完成的人类染色体。此染色体内大约含有300到400个基因，依预测方式而有所不同。
相关疾病
- 阿兹海默症第一型
- 肌肉萎缩性侧索硬化症（渐冻人症）第一型
- 唐氏症候群
- Holocarboxylase synthetase deficiency
- Homocystinuria
- Jervell and Lange-Nielsen syndrome
- Leukocyte adhesion deficiency
- Nonsyndromic deafness
- Nonsyndromic deafness, autosomal recessive
- Romano-Ward syndrome
参考文献
- Antonarakis SE, Lyle R, Dermitzakis ET, Reymond A, Deutsch S. Chromosome 21 and down syndrome: from genomics to pathophysiology. Nat Rev Genet. 2004, 5 (10): 725–38. PMID 15510164.
- Antonarakis SE, Lyle R, Deutsch S, Reymond A. Chromosome 21: a small land of fascinating disorders with unknown pathophysiology. Int J Dev Biol. 2002, 46 (1): 89–96. PMID 11902692.
- Antonarakis SE. Chromosome 21: from sequence to applications. Curr Opin Genet Dev. 2001, 11 (3): 241–6. PMID 11377958.
- Gardiner K, Davisson M. The sequence of human chromosome 21 and implications for research into Down syndrome. Genome Biol. 2000, 1 (2): REVIEWS0002. PMID 11178230.
- Gilbert F. Disease genes and chromosomes: disease maps of the human genome. Chromosome 21. Genet Test. 1997, 1 (4): 301–6. PMID 10464663.
- Hattori M, Fujiyama A, Taylor TD, Watanabe H, Yada T, Park HS, Toyoda A, Ishii K, Totoki Y, Choi DK, Groner Y, Soeda E, Ohki M, Takagi T, Sakaki Y, Taudien S, Blechschmidt K, Polley A, Menzel U, Delabar J, Kumpf K, Lehmann R, Patterson D, Reichwald K, Rump A, Schillhabel M, Schudy A, Zimmermann W, Rosenthal A, Kudoh J, Schibuya K, Kawasaki K, Asakawa S, Shintani A, Sasaki T, Nagamine K, Mitsuyama S, Antonarakis SE, Minoshima S, Shimizu N, Nordsiek G, Hornischer K, Brant P, Scharfe M, Schon O, Desario A, Reichelt J, Kauer G, Blocker H, Ramser J, Beck A, Klages S, Hennig S, Riesselmann L, Dagand E, Haaf T, Wehrmeyer S, Borzym K, Gardiner K, Nizetic D, Francis F, Lehrach H, Reinhardt R, Yaspo ML. The DNA sequence of human chromosome 21. Nature. 2000, 405 (6784): 311–9. PMID 10830953.
- Sawinska M, Ladon D. Mechanism, detection and clinical significance of the reciprocal translocation t(12;21)(p12;q22) in the children suffering from acute lymphoblastic leukaemia. Leuk Res. 2004, 28 (1): 35–42. PMID 14630078.
- Sleegers K,Brouwers N,Gijselinck I,Theuns J, Goossens D, Wauters J,Del-Favero J,Cruts M, van Duijn CM,Van Broeckhoven C. APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy. Brain. 2006. PMID 16921174.
- Rovelet-Lecrux A,Hannequin D,Raux G,Le Meur N,Laquerriere A, Vital A,Dumanchin C,Feuillette S,Brice A,Vercelletto M, Dubas F,Frebourg T,Campion D. APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. Nature Genetics. 2005. PMID 16369530.