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婴儿肝内胆汁淤积易感基因的研究进展

李常晓 王朝霞

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婴儿肝内胆汁淤积易感基因的研究进展

详细信息
  • 中图分类号: R714.2

The progression of genetic susceptibility in infantile intrahepatic cholestasis

  • 摘要: 婴儿肝内胆汁淤积的发生与基因多态性所致的遗传易感性相关,目前研究已发现许多相关基因及易感突变位点,本文就这些基因与婴儿肝内胆汁淤积的遗传易感性关系的研究进展作一介绍。

     

  • [1]Moyer V, Freese D, Whitington P, et al.Guidelines for the evaluationof cholestatic jaundice in infants:recommendations of the NorthAmerican Society for Pediatric Gastroenterology, Hepatology andNutrition[J].J Pediatr Gastroenterol Nutr, 2004, 39 (2) :115-128.
    [2]Davit-Spraul A, Gonzales E, Baussan C, et al.Progressive familialintrahepatic cholestasis[J].Orphanet Journal of Rare Diseases, 2009, 4:1.
    [3]Oude Elferink RP, Paulusma CC, Groen AK.Hepatocanaliculartransport defects:pathophysiologic mechanisms of rarediseases[J].Gastroenterology, 2006, 130 (3) :908-925.
    [4]Demeilliers C, Jacquemin E, Barbu E, et al.Altered hepatobiliarygene expressions in PFICl:ATP8Bl gene defect is associated withCFTR downregulation[J].Hepatology, 2006, 43 (5) :1125.
    [5]Cai SY, Gautam S, Nguyen T, et al.ATP8B1 Deficieney disruptsthe bile canalicular membrane bilayer structure in hepatocytes, butFXR expression and activity are mainrained[J].Gastroenterology, 2009, 136 (3) :1060-1069.
    [6]Pauli-gagnus C, Kerb R, Fattinger K, et al.BSEP and MDR3haplotype structure in healthy Caucasians, primary biliary cirrhosisand primary sclerosing cholangitis[J].Hepatology, 2004, 39 (3) :779-791.
    [7] 王中林, 朱启镕.婴儿进行性肝内胆汁淤积症及BSEP基因突变研究[D].上海:复旦大学, 2000.
    [8]Oude Elferink liP, Paulusma CC.Function and pathophysiologicalimportance of ABCB4 (MDR3 P-glycoprotein) [J].Pflugers Arch, 2007, 453 (5) :601-610.
    [9]Copaei I, Micu L, Iliescu L, et al.New therapeutical indications ofursocleoxycholic acid[J].Rom J Gastroenter, 2005, 14 (3) :259-266.
    [10]Rosmorduc O, Hermelin B, Boelle PY, et al.ABCB4 genemutation-associated cholelithiasis in adults[J].Gastroenterology, 2003, 125 (2) :452-459.
    [11]Ohura T, Kobayashi K, Tazawa Y, et al.Clinical pictures of 75patients with neonatal intrahepatic cholestasis caused by citrindeficiency (NICCD) [J].J Inherit Metab Dis, 2007, 30 (2) :139-144.
    [12]Lu YB, Kobayashi K, Ushikai M, et al.Frequency and distributionin East Asia of 12 mutations identiWed in the SLC25A13 gene ofJapanese patients with citrin deficiency[J].J Hum Genet, 2005, 50 (7) :338-346.
    [13]Ngu H, Zabedah M, Kobayashi K.Neonatal intrahepaticcholestasis caused by citrin deficiency (NICCD) in three Malaychildren[J].Malays J Pathol, 2010, 32 (1) :53-57.
    [14]Yasuda T.Yaneguchi N, Kobayashi K, et al.Identification of twonovel mutations in the SLC25A13 genne and detection of sevenmutations in 102 patients with adult-onset typeⅡcitrullinemia[J].Hum Cenet, 2000, 107 (6) :537-545.
    [15]Yeh JN, Jeng YM, Chen HL, et al.Hepatic steatosis and neonatalintrahepatic cholestasis caused by citrin deficiency (NICCD) inTaiwanese infants[J].J Pediatr, 2006, 148 (5) :642-646.
    [16]Song YZ, Hao H, Ushikai M, et al.A difficult and complicatedcase Study:Neonatal intrahepatic cholestasis caused by citrindeficieney[J].Zhongguo Dang Dai Er Ke Za Zhi, 2006, 8 (2) :125-128.
    [17]张绍仁.SLC25A13基因突变在婴儿肝内胆汁淤积症中的意义[D].上海:复旦大学, 2008:13-27.
    [18]唐建文.MRP2在胆汁淤积中的研究进展[J].放射免疫学杂志, 2009, 22 (5) :501-502.
    [19]余秋云, 舒明, 戴金华, 等.鼠肝缺血再灌注后血浆胆红素升高的分子机制[J].中华肝病学杂志, 2007, 10 (15) :763-766.
    [20]Boyer J, Crosnier C, Driancourt C, et al.Expression of mutantJAGGED1 alleles in pations with Alagille syndrome[J].Hum Genet, 2005, 116 (6) :445-453.
    [21]Colliton RP, Bason L, Lu FM, et al.Mutation analysis ofJagged1 (JAG1) in Alagile syndrome patients[J].Hum Mutat, 2001, 17 (2) :151-152.
    [22]R?pke A, Kujat A, Gr?ber M, et al.Identification of 36 novelJagged1 (JAG1) mutations in patients with Alagille syndrome[J].Hum Mutat, 2003, 21 (1) :100.
    [23]Knowles MR, Durie PR.What is cystic fibrosis?[J].N Engl J Med, 2002, 347 (6) :439-442.
    [24]金春香, 宋莹中, 荃善, 等.中国健康人群C F T R基因多态性研究[J].中国实验诊断学, 2008, 8 (12) :979-982.
    [25]Krause C, Rosewich H, G?rtner J.Rational diagnostic strategy forZellweger syndrome spectrum patientsRational diagnostic strategyfor ZSS patients[J].Eur J Hum Genet, 2009, 17 (6) :741-748.
    [26]Lemonde HA, Custard EJ, Bouquet J, et al.Mutations in SRD5B1 (AKR1D1) , the gene encodingΔ4-3-oxosteroid 5β-reductase, in hepatitis and liver failure in infancy[J].Gut, 2003, 52 (10) :1494-1499.
    [27]Héron B, Ogier H.Niemann-Pick type C disease:clinicalpresentations in pediatric patients[J].Arch Pediatr, 2010, 17 (Suppl2) :S45-49.
    [28]占克斌, 薛峥.C型Niemann-Pick病的诊断及两个基因新突变位点的发现史[J].中华神经科杂志, 2008, 41 (3) :164-168.
    [29]Chagnon P, Michaud J, Mitchell G, et al.A Missense Mutation (R565W) in Cirhin (FLJ14728) in North American Indian childhoodcirrhosis[J].Am J Hum Genet, 2006, 71 (6) :1443-1449.
    [30]Yu B, Mitchell GA, Richter A.Nucleolar localization of cirhin, theprotein mutated in North American Indian childhood cirrhosis[J].Exp Cell Res, 2005, 311 (2) :218-228.
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  • 收稿日期:  2010-10-25
  • 出版日期:  2011-07-20
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