染色体倒位:修订间差异

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[[Image:Inversioncartoon.gif|thumb|right|250px|以[[多線染色體]]觀察染色體倒位的現象]]
[[Image:Inversioncartoon.gif|thumb|right|250px|以[[多線染色體]]觀察染色體倒位的現象]]
[[Image:a_arm_inversion.jpg|thumb|right|250px|{{le|阿克西摇蚊属|Axarus}}物種發生倒位的多線染色體]]
[[Image:a_arm_inversion.jpg|thumb|right|250px|{{le|阿克西摇蚊属|Axarus}}物種發生倒位的多線染色體]]
'''染色体倒位'''(Chromosomal inversion)為[[真核生物]]細胞中[[染色體]]某段序列前後倒置、使核苷酸序列排列相反的[[突變]],最早於1921年由美國遺傳學家{{le|阿爾弗雷德·斯圖特萬特|Alfred Sturtevant}}發現若發生倒位的區域包含[[中節]]即稱為臂间倒位(pericentric inversion),若不包含則稱為臂內倒位(paracentric Inversion)。染色體倒位大多不會造成嚴重疾病<ref>{{cite book|url=https://www.sciencedirect.com/science/article/pii/B9780128165614000193|publisher=Academic Press|title=Human Reproductive Genetics Emerging Technologies and Clinical Applications|year=2020|page=295-316|author=JosepPla-Victori|chapter=The role of genetic counseling in the infertile patient|doi=10.1016/B978-0-12-816561-4.00019-3}}</ref>,但仍可能因影響單一基因序列或基因表現而造成疾病<ref name="pmid25998059">{{cite journal| author=Puig M, Casillas S, Villatoro S, Cáceres M| title=Human inversions and their functional consequences. | journal=Brief Funct Genomics | year= 2015 | volume= 14 | issue= 5 | pages= 369-79 | pmid=25998059 | doi=10.1093/bfgp/elv020 | pmc=4576756 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25998059 }} </ref>。臂间倒位可能會在[[減數分裂]]時影響[[互換]]進行而產生異常的[[配子]]<ref name="pmid20927412">{{cite journal| author=Kirkpatrick M| title=How and why chromosome inversions evolve. | journal=PLoS Biol | year= 2010 | volume= 8 | issue= 9 | pages= | pmid=20927412 | doi=10.1371/journal.pbio.1000501 | pmc=2946949 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20927412 }} </ref>。
'''染色体倒位'''(Chromosomal inversion)為[[真核生物]]細胞中[[染色體]]某段序列前後倒置、使核苷酸序列排列相反的[[突變]],最早於1921年由美國遺傳學家{{le|阿爾弗雷德·斯圖特萬特|Alfred Sturtevant}}發現若發生倒位的區域包含[[中節]]即稱為臂间倒位(pericentric inversion),若不包含則稱為臂內倒位(paracentric Inversion),[[基因組]]中的[[反向重複序列]]可能會引發{{le|位點特異性重組|Site-Specific Recombination}}而造成染色體倒位<ref name="pmid23643616">{{cite journal| author=Lange J, Noordam MJ, van Daalen SK, Skaletsky H, Clark BA, Macville MV | display-authors=etal| title=Intrachromosomal homologous recombination between inverted amplicons on opposing Y-chromosome arms. | journal=Genomics | year= 2013 | volume= 102 | issue= 4 | pages= 257-64 | pmid=23643616 | doi=10.1016/j.ygeno.2013.04.018 | pmc=3785290 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23643616 }} </ref>。染色體倒位大多不會造成嚴重疾病<ref>{{cite book|url=https://www.sciencedirect.com/science/article/pii/B9780128165614000193|publisher=Academic Press|title=Human Reproductive Genetics Emerging Technologies and Clinical Applications|year=2020|page=295-316|author=JosepPla-Victori|chapter=The role of genetic counseling in the infertile patient|doi=10.1016/B978-0-12-816561-4.00019-3}}</ref>,少數致病者可能倒位影響單一基因序列或基因表現<ref name="pmid25998059">{{cite journal| author=Puig M, Casillas S, Villatoro S, Cáceres M| title=Human inversions and their functional consequences. | journal=Brief Funct Genomics | year= 2015 | volume= 14 | issue= 5 | pages= 369-79 | pmid=25998059 | doi=10.1093/bfgp/elv020 | pmc=4576756 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25998059 }} </ref>,如四成左右的{{le|血友病A型|hemophilia A}}為[[X染色體]]上發生倒位而缺乏{{le|第8凝血因子|Factor VIII}},也有染色體倒位造成{{le|己醛糖酸鹽硫酸脂脢|iduronate sulfatase}}突變而致{{le|韓特氏症|Hunter syndrome}},以及造成{{le|emerin蛋白|emerin}}突變而致{{le|Emery-Dreifuss肌失養症|Emery-Dreifuss Muscular Dystrophy}}的案例<ref name="pmid20156332">{{cite journal| author=Feuk L| title=Inversion variants in the human genome: role in disease and genome architecture. | journal=Genome Med | year= 2010 | volume= 2 | issue= 2 | pages= 11 | pmid=20156332 | doi=10.1186/gm132 | pmc=2847702 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20156332 }} </ref>。臂间倒位可能會在[[減數分裂]]時影響[[互換]]進行而產生異常的[[配子]]<ref name="pmid20927412">{{cite journal| author=Kirkpatrick M| title=How and why chromosome inversions evolve. | journal=PLoS Biol | year= 2010 | volume= 8 | issue= 9 | pages= | pmid=20927412 | doi=10.1371/journal.pbio.1000501 | pmc=2946949 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20927412 }}</ref>。


有些[[細胞遺傳學]]技術有助於染色体倒位的檢測,如1933年美國動物學家{{le|費洛普勒·皮特|Theophilus Painter}}提出以果蠅[[多線染色體]]觀察染色体倒位的研究方法<ref>{{cite journal |author=Painter TS |year=1933 |title=A new method for the study of chromosome rearrangements and the plotting of chromosome maps |journal=Science |volume=78 |pages=585–6 | pmid=17801695 | doi = 10.1126/science.78.2034.585 | issue=2034}}</ref>。
有些[[細胞遺傳學]]技術有助於染色体倒位的檢測,如1933年美國動物學家{{le|費洛普勒·皮特|Theophilus Painter}}提出以果蠅[[多線染色體]]觀察染色体倒位的研究方法<ref>{{cite journal |author=Painter TS |year=1933 |title=A new method for the study of chromosome rearrangements and the plotting of chromosome maps |journal=Science |volume=78 |pages=585–6 | pmid=17801695 | doi = 10.1126/science.78.2034.585 | issue=2034}}</ref>。

2021年5月5日 (三) 22:13的版本

多線染色體觀察染色體倒位的現象
阿克西摇蚊属英语Axarus物種發生倒位的多線染色體

染色体倒位(Chromosomal inversion)為真核生物細胞中染色體某段序列前後倒置、使核苷酸序列排列相反的突變,最早於1921年由美國遺傳學家阿爾弗雷德·斯圖特萬特英语Alfred Sturtevant發現,若發生倒位的區域包含中節即稱為臂间倒位(pericentric inversion),若不包含則稱為臂內倒位(paracentric Inversion),基因組中的反向重複序列可能會引發位點特異性重組而造成染色體倒位[1]。染色體倒位大多不會造成嚴重疾病[2],少數致病者可能是因倒位影響單一基因序列或基因表現[3],如四成左右的血友病A型英语hemophilia AX染色體上發生倒位而缺乏第8凝血因子英语Factor VIII,也有染色體倒位造成己醛糖酸鹽硫酸脂脢英语iduronate sulfatase突變而致韓特氏症英语Hunter syndrome,以及造成emerin蛋白英语emerin突變而致Emery-Dreifuss肌失養症英语Emery-Dreifuss Muscular Dystrophy的案例[4]。臂间倒位可能會在減數分裂時影響互換進行而產生異常的配子[5]

有些細胞遺傳學技術有助於染色体倒位的檢測,如1933年美國動物學家費洛普勒·皮特英语Theophilus Painter提出以果蠅多線染色體觀察染色体倒位的研究方法[6]

身高234公分的美國人布倫登·亞當斯英语Brenden Adams曾是金氏世界紀錄保持者,其身高是12號染色體一段序列倒位所致[7]

參考文獻

  1. ^ Lange J, Noordam MJ, van Daalen SK, Skaletsky H, Clark BA, Macville MV; et al. Intrachromosomal homologous recombination between inverted amplicons on opposing Y-chromosome arms.. Genomics. 2013, 102 (4): 257–64. PMC 3785290可免费查阅. PMID 23643616. doi:10.1016/j.ygeno.2013.04.018. 
  2. ^ JosepPla-Victori. The role of genetic counseling in the infertile patient. Human Reproductive Genetics Emerging Technologies and Clinical Applications. Academic Press. 2020: 295-316. doi:10.1016/B978-0-12-816561-4.00019-3. 
  3. ^ Puig M, Casillas S, Villatoro S, Cáceres M. Human inversions and their functional consequences.. Brief Funct Genomics. 2015, 14 (5): 369–79. PMC 4576756可免费查阅. PMID 25998059. doi:10.1093/bfgp/elv020. 
  4. ^ Feuk L. Inversion variants in the human genome: role in disease and genome architecture.. Genome Med. 2010, 2 (2): 11. PMC 2847702可免费查阅. PMID 20156332. doi:10.1186/gm132. 
  5. ^ Kirkpatrick M. How and why chromosome inversions evolve.. PLoS Biol. 2010, 8 (9). PMC 2946949可免费查阅. PMID 20927412. doi:10.1371/journal.pbio.1000501. 
  6. ^ Painter TS. A new method for the study of chromosome rearrangements and the plotting of chromosome maps. Science. 1933, 78 (2034): 585–6. PMID 17801695. doi:10.1126/science.78.2034.585. 
  7. ^ Meet the Boy Too Big for His Mom's SUV – ABC News. [2008-08-19].