21號染色體
外观
(重定向自21號染色體 (人類))
21號染色體 | |
---|---|
物種 | Homo sapiens |
基因數量 | 200-400 |
人類的21號染色體是23對染色體的其中之一,正常狀況下每個細胞擁有兩條。此染色體是所有人類染色體中最小的一個,含有大約4700萬個鹼基對,佔細胞內所有DNA的1.5%。
21號染色體的定序是在2000年宣布完成,是人類基因組計畫中第二條定序完成的人類染色體。此染色體內大約含有300到400個基因,依預測方式而有所不同。
相關疾病
[编辑]- 阿茲海默症第一型
- 肌肉萎縮性側索硬化症(漸凍人症)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
[编辑]- 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.