Gilbert's syndrome pathophysiology: Difference between revisions
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==Overview== | |||
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Gilbert's syndrome is caused by approximately 30%-50% reduced [[glucuronidation]] activity of the enzyme [[glucuronosyltransferase|Uridine-diphosphate-glucuronosyltransferase isoform 1A1 (UGT1A1)]].<ref>{{cite journal|author=Raijmakers MT, Jansen PL, Steegers EA, Peters WH|title=Association of human liver bilirubin UDP-glucuronyltransferase activity with a polymorphism in the promoter region of the UGT1A1 gene|journal=Journal of Hepatology|year=2000|volume=33|issue=3|pages=348-351|id=PMID 11019988}}</ref><ref>{{cite journal | author=Bosma PJ, Chowdhury JR, Bakker C, Gantla S, de Boer A, Oostra BA, Lindhout D, Tytgat GN, Jansen PL, Oude Elferink RP, et al. | title=The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome. |journal=New England Journal of Medicine| volume=333 | issue=18 | pages=1171-5 | year=1995 | id=PMID 7565971}}</ref> The gene which encodes UGT1A1 normally has a [[promoter region]] [[TATA box]] containing the [[allele]] A(TA<sub>6</sub>)TAA. Gilbert's syndrome is associated with [[homozygous]] A(TA<sub>7</sub>)TAA alleles.<ref>{{cite journal | author=Monaghan G, Ryan M, Seddon R, Hume R, Burchell B | title=Genetic variation in bilirubin UPD-glucuronosyltransferase gene promoter and Gilbert's syndrome. | journal=Lancet | volume=347 | issue=9001 | pages=578-81 | year=1996 | id=PMID 8596320}}</ref> The allele polymorphism is referred to as UGT1A1*28. | Gilbert's syndrome is caused by approximately 30%-50% reduced [[glucuronidation]] activity of the enzyme [[glucuronosyltransferase|Uridine-diphosphate-glucuronosyltransferase isoform 1A1 (UGT1A1)]].<ref>{{cite journal|author=Raijmakers MT, Jansen PL, Steegers EA, Peters WH|title=Association of human liver bilirubin UDP-glucuronyltransferase activity with a polymorphism in the promoter region of the UGT1A1 gene|journal=Journal of Hepatology|year=2000|volume=33|issue=3|pages=348-351|id=PMID 11019988}}</ref><ref>{{cite journal | author=Bosma PJ, Chowdhury JR, Bakker C, Gantla S, de Boer A, Oostra BA, Lindhout D, Tytgat GN, Jansen PL, Oude Elferink RP, et al. | title=The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome. |journal=New England Journal of Medicine| volume=333 | issue=18 | pages=1171-5 | year=1995 | id=PMID 7565971}}</ref> The gene which encodes UGT1A1 normally has a [[promoter region]] [[TATA box]] containing the [[allele]] A(TA<sub>6</sub>)TAA. Gilbert's syndrome is associated with [[homozygous]] A(TA<sub>7</sub>)TAA alleles.<ref>{{cite journal | author=Monaghan G, Ryan M, Seddon R, Hume R, Burchell B | title=Genetic variation in bilirubin UPD-glucuronosyltransferase gene promoter and Gilbert's syndrome. | journal=Lancet | volume=347 | issue=9001 | pages=578-81 | year=1996 | id=PMID 8596320}}</ref> The allele polymorphism is referred to as UGT1A1*28. | ||
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{{Reflist|2}} | {{Reflist|2}} | ||
[[Category: | [[Category:Gastroenterology]] | ||
[[Category:Hepatology]] | |||
[[Category:Genetic disorders]] | |||
[[Category:Syndromes]] | |||
[[Category:Disease]] | [[Category:Disease]] | ||
[[Category: | [[Category:Metabolic disorders]] | ||
[[Category:needs content]] | |||
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Gilbert's syndrome is caused by approximately 30%-50% reduced glucuronidation activity of the enzyme Uridine-diphosphate-glucuronosyltransferase isoform 1A1 (UGT1A1).[1][2] The gene which encodes UGT1A1 normally has a promoter region TATA box containing the allele A(TA6)TAA. Gilbert's syndrome is associated with homozygous A(TA7)TAA alleles.[3] The allele polymorphism is referred to as UGT1A1*28.
References
- ↑ Raijmakers MT, Jansen PL, Steegers EA, Peters WH (2000). "Association of human liver bilirubin UDP-glucuronyltransferase activity with a polymorphism in the promoter region of the UGT1A1 gene". Journal of Hepatology. 33 (3): 348–351. PMID 11019988.
- ↑ Bosma PJ, Chowdhury JR, Bakker C, Gantla S, de Boer A, Oostra BA, Lindhout D, Tytgat GN, Jansen PL, Oude Elferink RP; et al. (1995). "The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome". New England Journal of Medicine. 333 (18): 1171–5. PMID 7565971.
- ↑ Monaghan G, Ryan M, Seddon R, Hume R, Burchell B (1996). "Genetic variation in bilirubin UPD-glucuronosyltransferase gene promoter and Gilbert's syndrome". Lancet. 347 (9001): 578–81. PMID 8596320.