布卢姆综合征：修订间差异
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'''布盧姆綜合徵'''（{{lang-en|Bloom syndrome}}，文獻中通常縮寫爲'''BS'''）<ref>{{OMIM|210900|Bloom Syndrome; BLM}}</ref>，又名布盧姆—托雷—Machacek綜合徵（Bloom-Torre-Machacek syndrome）<ref name="Andrews">{{cite book |author1=James, William |author2=Berger, Timothy |author3=Elston, Dirk |title=Andrews' Diseases of the Skin: Clinical Dermatology |publisher=Saunders |year=2005 |isbn=0-7216-2921-0 |page=575 |edition=10th}}</ref>，係一種罕見的[[常染色體隱性遺傳病]]<ref>{{cite journal|pmid=10823897|year=2000|last1=Karow|first1=JK|last2=Constantinou|first2=A|last3=Li|first3=JL|last4=West|first4=SC|last5=Hickson|first5=ID|title=The Bloom's syndrome gene product promotes branch migration of holliday junctions|volume=97|issue=12|pages=6504–8|doi=10.1073/pnas.100448097|pmc=18638|journal=Proceedings of the National Academy of Sciences of the United States of America}}</ref><ref>{{cite journal |pmid=9482582 |year=1998 |author1=Straughen, Je |author2=Johnson, J |author3=Mclaren, D |author4=Proytcheva, M |author5=Ellis, N |author6=German, J |author7=Groden, J |title=A rapid method for detecting the predominant Ashkenazi Jewish mutation in the Bloom's syndrome gene |volume=11 |issue=2 |pages=175–8 |doi=10.1002/(SICI)1098-1004(1998)11:2<175::AID-HUMU11>3.0.CO;2-W |journal=Human Mutation}}</ref>。症狀爲身材矮小、易罹患癌症、基因組不穩定<ref>{{Cite journal|url = http://jcb.rupress.org/content/153/2/367.abstract|title = Regulation and Localization of the Bloom Syndrome Protein in Response to DNA Damage|last = Bischof|first = Oliver|date = 16 April 2001|journal = Journal of Cell Biology|pmid = |access-date = 17 April 2015|first2 = Sahn-Ho|last2 = Kim|last3 = Irving|first3 = John|last4 = Beresten|first4 = Sergey|last5 = Ellis|first5 = Nathan A.|last6 = Campisi|first6 = Judith|doi=10.1083/jcb.153.2.367|volume=153|pages=367–380}}</ref>布盧姆綜合徵由{{Link-en|布盧姆綜合徵蛋白|Bloom syndrome protein|BLM基因}}突變導致。BLM基因編碼一個RecQ家族的[[解旋酶]]。布魯姆綜合徵的患者的基因組尤其不穩定，同源染色體間過度交叉，[[姐妹分體交換]]（SCE）也處於過度狀態。布盧姆綜合徵由紐約的皮膚病醫生大衛·布盧姆在1954年最早發現<ref>{{cite journal |author=Bloom D |title=Congenital telangiectatic erythema resembling lupus erythematosus in dwarfs; probably a syndrome entity |journal=AMA American journal of diseases of children |volume=88 |issue=6 |pages=754–8 |year=1954 |pmid=13206391 |doi=10.1001/archpedi.1954.02050100756008}}</ref>。 |
'''布盧姆綜合徵'''（{{lang-en|Bloom syndrome}}，文獻中通常縮寫爲'''BS'''）<ref>{{OMIM|210900|Bloom Syndrome; BLM}}</ref>，又名布盧姆—托雷—Machacek綜合徵（Bloom-Torre-Machacek syndrome）<ref name="Andrews">{{cite book |author1=James, William |author2=Berger, Timothy |author3=Elston, Dirk |title=Andrews' Diseases of the Skin: Clinical Dermatology |publisher=Saunders |year=2005 |isbn=0-7216-2921-0 |page=575 |edition=10th}}</ref>，係一種罕見的[[常染色體隱性遺傳病]]<ref>{{cite journal|pmid=10823897|year=2000|last1=Karow|first1=JK|last2=Constantinou|first2=A|last3=Li|first3=JL|last4=West|first4=SC|last5=Hickson|first5=ID|title=The Bloom's syndrome gene product promotes branch migration of holliday junctions|volume=97|issue=12|pages=6504–8|doi=10.1073/pnas.100448097|pmc=18638|journal=Proceedings of the National Academy of Sciences of the United States of America}}</ref><ref>{{cite journal |pmid=9482582 |year=1998 |author1=Straughen, Je |author2=Johnson, J |author3=Mclaren, D |author4=Proytcheva, M |author5=Ellis, N |author6=German, J |author7=Groden, J |title=A rapid method for detecting the predominant Ashkenazi Jewish mutation in the Bloom's syndrome gene |volume=11 |issue=2 |pages=175–8 |doi=10.1002/(SICI)1098-1004(1998)11:2<175::AID-HUMU11>3.0.CO;2-W |journal=Human Mutation}}</ref>。症狀爲身材矮小、易罹患癌症、基因組不穩定<ref>{{Cite journal|url = http://jcb.rupress.org/content/153/2/367.abstract|title = Regulation and Localization of the Bloom Syndrome Protein in Response to DNA Damage|last = Bischof|first = Oliver|date = 16 April 2001|journal = Journal of Cell Biology|pmid = |access-date = 17 April 2015|first2 = Sahn-Ho|last2 = Kim|last3 = Irving|first3 = John|last4 = Beresten|first4 = Sergey|last5 = Ellis|first5 = Nathan A.|last6 = Campisi|first6 = Judith|doi=10.1083/jcb.153.2.367|volume=153|pages=367–380}}</ref>布盧姆綜合徵由{{Link-en|布盧姆綜合徵蛋白|Bloom syndrome protein|BLM基因}}突變導致。BLM基因編碼一個RecQ家族的[[解旋酶]]。布魯姆綜合徵的患者的基因組尤其不穩定，同源染色體間過度交叉，[[姐妹分體交換]]（SCE）也處於過度狀態。布盧姆綜合徵由紐約的皮膚病醫生大衛·布盧姆在1954年最早發現<ref>{{cite journal |author=Bloom D |title=Congenital telangiectatic erythema resembling lupus erythematosus in dwarfs; probably a syndrome entity |journal=AMA American journal of diseases of children |volume=88 |issue=6 |pages=754–8 |year=1954 |pmid=13206391 |doi=10.1001/archpedi.1954.02050100756008}}</ref>。 |
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==遺傳學== |
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布盧姆綜合徵係一種常染色體隱性遺傳病，如果來自母親的和來自父親的''BLM''基因都發生了相關突變，即會發病<ref>{{cite journal |vauthors=Ellis NA, Groden J, Ye TZ, Straughen J, Ciocci S, Lennon DJ, Proytcheva M, Alhadeff B, German J | year = 1995 | title = The Bloom's syndrome gene product is homologous to RecQ helicases | url = | journal = Cell | volume = 83 | issue = | pages = 655–666 | doi=10.1016/0092-8674(95)90105-1 | pmid=7585968}}</ref>。和其他的常染色體隱性遺傳病一樣，一個布盧姆綜合徵的患者的父母不一定是布盧姆綜合徵的患者。布盧姆綜合徵相關的BLM基因突變爲無效錯義突變，使得相關的酶失去了催化活性<ref>{{cite journal |vauthors=German J, Ciocci S, Ye TZ, Sanz MM, Ellis NA | year = 2007 | title = Syndrome-causing mutations at BLM in persons in the Bloom's Syndrome Registry | url = | journal = Hum Mutation | volume = 28 | issue = | pages = 743–753 | doi=10.1002/humu.20501 | pmid=17407155}}</ref>。布魯姆綜合徵患者的細胞的基因組相當不穩定，重組和突變發生頻率都處於過量狀態。人類兩個BLM基因都爲隱性的細胞（BLM–/–）對紫外線和甲基磺酸都格外敏感<ref name="pmid15509577">{{cite journal |vauthors=So S, Adachi N, Lieber MR, Koyama H |title=Genetic interactions between BLM and DNA ligase IV in human cells |journal=J. Biol. Chem. |volume=279 |issue=53 |pages=55433–42 |year=2004 |pmid=15509577 |doi=10.1074/jbc.M409827200 |url=}}</ref>，說明這種細胞缺乏修復能力。在染色體水平上，布盧姆綜合徵患者的姐妹分體交換頻率約爲正常的四射體的10倍——這是同源染色體交叉互換頻率提高的細胞學表現。另外，患者的染色體還會出現染色單體斷裂、端粒粘黏、染色體破碎等表現<ref>{{cite journal | author = German J | date = Jan 1995 | title = Bloom's syndrome | url = | journal = Dermatol Clin. | volume = 13 | issue = 1| pages = 7–18 }}</ref>。染色體的過度重組可由分子探針查出<ref>{{cite journal |vauthors=Langlois RG, Bigbee WL, Jensen RH, German J | date = Jan 1989 | title = Evidence for increased in vivo mutation and somatic recombination in Bloom's syndrome | doi = 10.1073/pnas.86.2.670 | journal = Proc Natl Acad Sci U S A | volume = 86 | issue = 2| pages = 670–4 | pmid=2911598 | pmc=286535}}</ref>。''BLM''基因編碼一個{{Link-en|RecQ|RecQ}}家族的蛋白。BLM在核質中的擴散係數爲1.34 <math> \tfrac{\mathrm{\mu m}^2}{\mathrm{s}} </math>，在核仁中爲0.13<math> \textstyle \tfrac{\mathrm{\mu m}^2}{\mathrm{s}} </math> at nucleoli <ref name="Bendtsen_2014">{{cite journal |author1=Kristian Moss Bendtsen |author2=Martin Borch Jensen |author3=Alfred May |author4=Lene Juel Rasmussen |author5=Ala Trusina |author6=Vilhelm A. Bohr |author7=Mogens H. Jensen | title = Dynamics of the DNA repair proteins WRN and BLM in the nucleoplasm and nucleoli | journal = European Biophysics Journal | year = 2014 | pmid = 25119658 | doi=10.1007/s00249-014-0981-x | volume=43 | pages=509–16}}</ref>。DNA解旋酶的功能是暫時打開DNA分子的雙鏈。DNA解旋酶在DNA複製和DNA修復中扮演重要角色。BLM很有可能在DNA複製中起作用，因爲布盧姆綜合徵患者在DNA複製中常常出錯，且對阻礙DNA複製的藥劑敏感。 |
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==參考== |
==參考== |
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2016年6月10日 (五) 05:50的版本
| 布卢姆综合征 Bloom syndrome | |
|---|---|
| 同义词 | 布盧姆—托雷—Machacek綜合徵 Bloom-Torre-Machacek syndrome |
 | |
| 布盧姆綜合徵患者的BLM解旋酶的晶體結構（與DNA形成複合物） Crystal structure of the Bloom's syndrome helicase BLM in complex with DNA (PDB ID: 4CGZ). | |
| 类型 | 常染色体隐性遗传病[*]、genetic photodermatosis[*]、polymalformative genetic syndrome with increased risk of developing cancer[*]、inherited skin tumor[*]、造血和淋巴組織腫瘤[*]、photodermatosis[*]、rare genetic developmental defect during embryogenesis[*]、malformation syndrome with short stature[*]、developmental anomaly of metabolic origin[*]、genetic hematologic disease[*]、DNA repair defect other than combined T-cell and B-cell immunodeficiencies[*]、症候群、疾病 |
| 分类和外部资源 | |
| 醫學專科 | 醫學遺傳學 |
| ICD-9-CM | 757.39 |
| OMIM | 210900 |
| DiseasesDB | 1505 |
| eMedicine | derm/54 |
| MeSH | D001816 |
| Orphanet | 125 |
布盧姆綜合徵（英語：Bloom syndrome，文獻中通常縮寫爲BS）[1]，又名布盧姆—托雷—Machacek綜合徵（Bloom-Torre-Machacek syndrome）[2]，係一種罕見的常染色體隱性遺傳病[3][4]。症狀爲身材矮小、易罹患癌症、基因組不穩定[5]布盧姆綜合徵由BLM基因突變導致。BLM基因編碼一個RecQ家族的解旋酶。布魯姆綜合徵的患者的基因組尤其不穩定，同源染色體間過度交叉，姐妹分體交換（SCE）也處於過度狀態。布盧姆綜合徵由紐約的皮膚病醫生大衛·布盧姆在1954年最早發現[6]。
遺傳學
布盧姆綜合徵係一種常染色體隱性遺傳病，如果來自母親的和來自父親的BLM基因都發生了相關突變，即會發病[7]。和其他的常染色體隱性遺傳病一樣，一個布盧姆綜合徵的患者的父母不一定是布盧姆綜合徵的患者。布盧姆綜合徵相關的BLM基因突變爲無效錯義突變，使得相關的酶失去了催化活性[8]。布魯姆綜合徵患者的細胞的基因組相當不穩定，重組和突變發生頻率都處於過量狀態。人類兩個BLM基因都爲隱性的細胞（BLM–/–）對紫外線和甲基磺酸都格外敏感[9]，說明這種細胞缺乏修復能力。在染色體水平上，布盧姆綜合徵患者的姐妹分體交換頻率約爲正常的四射體的10倍——這是同源染色體交叉互換頻率提高的細胞學表現。另外，患者的染色體還會出現染色單體斷裂、端粒粘黏、染色體破碎等表現[10]。染色體的過度重組可由分子探針查出[11]。BLM基因編碼一個RecQ家族的蛋白。BLM在核質中的擴散係數爲1.34 ，在核仁中爲0.13 at nucleoli [12]。DNA解旋酶的功能是暫時打開DNA分子的雙鏈。DNA解旋酶在DNA複製和DNA修復中扮演重要角色。BLM很有可能在DNA複製中起作用，因爲布盧姆綜合徵患者在DNA複製中常常出錯，且對阻礙DNA複製的藥劑敏感。
參考
- ^ OMIM Bloom Syndrome; BLM -210900
- ^ James, William; Berger, Timothy; Elston, Dirk. Andrews' Diseases of the Skin: Clinical Dermatology 10th. Saunders. 2005: 575. ISBN 0-7216-2921-0.
- ^ Karow, JK; Constantinou, A; Li, JL; West, SC; Hickson, ID. The Bloom's syndrome gene product promotes branch migration of holliday junctions. Proceedings of the National Academy of Sciences of the United States of America. 2000, 97 (12): 6504–8. PMC 18638
. PMID 10823897. doi:10.1073/pnas.100448097.
- ^ Straughen, Je; Johnson, J; Mclaren, D; Proytcheva, M; Ellis, N; German, J; Groden, J. A rapid method for detecting the predominant Ashkenazi Jewish mutation in the Bloom's syndrome gene. Human Mutation. 1998, 11 (2): 175–8. PMID 9482582. doi:10.1002/(SICI)1098-1004(1998)11:2<175::AID-HUMU11>3.0.CO;2-W.
- ^ Bischof, Oliver; Kim, Sahn-Ho; Irving, John; Beresten, Sergey; Ellis, Nathan A.; Campisi, Judith. Regulation and Localization of the Bloom Syndrome Protein in Response to DNA Damage. Journal of Cell Biology. 16 April 2001, 153: 367–380 [17 April 2015]. doi:10.1083/jcb.153.2.367.
- ^ Bloom D. Congenital telangiectatic erythema resembling lupus erythematosus in dwarfs; probably a syndrome entity. AMA American journal of diseases of children. 1954, 88 (6): 754–8. PMID 13206391. doi:10.1001/archpedi.1954.02050100756008.
- ^ Ellis NA, Groden J, Ye TZ, Straughen J, Ciocci S, Lennon DJ, Proytcheva M, Alhadeff B, German J. The Bloom's syndrome gene product is homologous to RecQ helicases. Cell. 1995, 83: 655–666. PMID 7585968. doi:10.1016/0092-8674(95)90105-1.
- ^ German J, Ciocci S, Ye TZ, Sanz MM, Ellis NA. Syndrome-causing mutations at BLM in persons in the Bloom's Syndrome Registry. Hum Mutation. 2007, 28: 743–753. PMID 17407155. doi:10.1002/humu.20501.
- ^ So S, Adachi N, Lieber MR, Koyama H. Genetic interactions between BLM and DNA ligase IV in human cells. J. Biol. Chem. 2004, 279 (53): 55433–42. PMID 15509577. doi:10.1074/jbc.M409827200.
- ^ German J. Bloom's syndrome. Dermatol Clin. Jan 1995, 13 (1): 7–18.
- ^ Langlois RG, Bigbee WL, Jensen RH, German J. Evidence for increased in vivo mutation and somatic recombination in Bloom's syndrome. Proc Natl Acad Sci U S A. Jan 1989, 86 (2): 670–4. PMC 286535 . PMID 2911598. doi:10.1073/pnas.86.2.670.
- ^ Kristian Moss Bendtsen; Martin Borch Jensen; Alfred May; Lene Juel Rasmussen; Ala Trusina; Vilhelm A. Bohr; Mogens H. Jensen. Dynamics of the DNA repair proteins WRN and BLM in the nucleoplasm and nucleoli. European Biophysics Journal. 2014, 43: 509–16. PMID 25119658. doi:10.1007/s00249-014-0981-x.
