期刊文献+
任意字段
题名或关键词
题名
关键词
文摘
作者
第一作者
机构
刊名
分类号
参考文献
作者简介
基金资助
栏目信息

Crigler-Najjar综合征Ⅱ型一家系基因诊断与分析 被引量：3

原文传递
导出
摘要 目的 研究慢性非溶血性高胆红素血症患者及其父母UGT1A1突变情况.方法 1例11岁男童,在除外溶血和甲状腺功能低下,根据其对苯巴比妥钠的不完全反应,临床诊断为Crigler-Najjar综合征Ⅱ型.患儿及父母分别抽血1 mL,对UGT1A1基因启动子和5个外显子区域行PCR并测序.结果 患者为Y486D纯合突变,未发现其他变异位点.患儿父母为Y486D杂合突变.结论 Y486D纯合突变可引起慢性非溶血性未结合胆红素血症,Crigler-Najjar综合征Ⅱ型为Y486D纯合突变的常见临床表现.
作者 蔡华波 李丽婷 方玲娟 周少明 王建设
机构地区 深圳市儿童医院消化内科 复旦大学附属儿科医院肝病中心 复旦大学附属金山医院儿科
出处 《中华实用儿科临床杂志》 CAS CSCD 北大核心 2014年第3期239-240,共2页 Chinese Journal of Applied Clinical Pediatrics
关键词 Crigler-Najjar综合征 胆红素-尿苷二磷酸葡萄糖醛酸转移酶 突变
分类号 R725.7 [医药卫生—儿科]
  • 相关文献

参考文献10

  • 1米荣.新生儿RH血型不合溶血病——Rh抗C溶血病[J].中国小儿急救医学,2013,20(1):101-103. 被引量：1
  • 2Petit F,Gajdos V,Capel L. Crigler-Najjar type Ⅱ syndrome may result from several types and combinations of mutations in the UGT1A1 gene[J].CLINICAL GENETICS,2006,(06):525-527.
  • 3Costa E,Vieira E,Martins M. Analysis of the UDP-glucuronosyl-transferase gene in Portuguese patients with a clinical diagnosis of Gilbert and Crigler-Najjar syndromes[J].Blood Cells, Molecules and Diseases,2006,(01):91-97.
  • 4Sneitz N,Bakker CT,de Knegt RJ. Crigler-Najjar syndrome in The Netherlands:identification of four novel UGT1A1 alleles,genotype-phenotype correlation,and functional analysis of 10 missense mutants[J].Human Mutation,2010,(01):52-59.
  • 5Hsieh SY,Wu YH,Lin DY. Correlation of mutational analysis to clinical features in Taiwan Residents patients with Gilbert's syndrome[J].The American Journal of Gastroenterology,2001,(04):1188-1193.
  • 6Ritter JK,Yeatman MT,Ferreira P. Identification of a genetic alteration in the code for bilirubin UDP-glucuronosyltransferase in the UGTI gene complex of a Crigler-Najjar type Ⅰ patient[J].Journal of Clinical Investigation,1992,(01):150-155.
  • 7Fabris L,Cadamuro M,Okolicsanyi L. The patient presenting with isolated hyperbilirubinemia[J].Digestive and Liver Disease,2009,(06):375-381.
  • 8Aono S,Yamada Y,Keino H. Identification of defect in the genes for bilirubin UDP-glucuronosyl-transferase in a patient with Crigler-Najjar syndrome type Ⅱ[J].Biochemical and Biophysical Research Communications,1993,(03):1239-1244.
  • 9Wu JX,Cheng GY,Huang J. A homozygous mutation in a Chinese man with Crigler-Najjar syndrome type Ⅱ and a family genetic analysis[J].Journal of Digestive Diseases,2008,(02):89-94.
  • 10Maruo Y,Sato H,Yamano T. Gilbert syndrome caused by a homozygous missense mutation(Tyr486Asp) of bilirubin UDP-glucuronosyl-transferase gene[J].Journal of Pediatrics,1998,(06):1045-1047.

二级参考文献6

同被引文献54

  • 1Rui Chen,Xiao-Hong Wang,Hai-Yan Fu,Shao-Ren Zhang,Kuerbanjiang Abudouxikuer,Takeyori Saheki,Jian-She Wang.Different regional distribution of SLC25A13 mutations in Chinese patients with neonatal intrahepatic cholestasis[J].World Journal of Gastroenterology,2013,19(28):4545-4551. 被引量：24
  • 2余利红,高静,王春丽,王静,高艳,袁巧玲,孙志贤,王航雁,张成岗.一个中国Gilbert综合征家系的遗传学分析[J].遗传,2006,28(1):11-16. 被引量：17
  • 3陈光榆,吴建新,黄健,韩泽广,李定国.Crigler-Najjar综合征Ⅱ型患者及其家系UGT1A1基因突变的分析[J].中国临床医学,2007,14(1):13-16. 被引量：5
  • 4沈健,吴建新,李定国.1例中国Gilbert综合征家系UGT1A1基因遗传分析[J].胃肠病学,2007,12(7):392-396. 被引量：17
  • 5KADAKOL A,GHOSH S S,SAPPAL B S,et al. Genetic lesions of bilirubin uridine -diphosphoglucuronate glucuronosyltransferase ( UGT1 A1 ) causing Crigler-Najjar and Gilbert syndromes : correla- tion of genotype to phenotype [ J ]. Hum Mutat,2000,16 (4) : 297- 306.
  • 6COSTA E, VIEIRA E, MARTINS M, et al. Analysis of the UDP- glucumnosyhransferase gene in Portuguese patients with a clinical diagnosis of Gilbert and Crigler-Najjar syndromes [ J ]. Blood Cells Mol D/s,2006,36( 1 ) :91-97.
  • 7MARUO Y, OZQENC F, MIMURA Y, et al. Compound heterozy- gote of a novel missense mutation ( p. K402T) and a double mis- sense mutation ( p. [ G71R ; Y486D ] ) in type ]I Crigler-Najjar syndrome [ J ]. J Pediatr Gastroenterol Nutr , 2011,52 ( 3 ) : 362- 365.
  • 8IIJIMA S, OHZEKI T, MARUO Y. Hereditary spherocytosis coexis- ting with UDP-glucuronosyltransferase deficiency highly suggestive of Crigler-Najjar syndrome type II [J]. Yonsei Med J,2011,52 (2) :369-372.
  • 9YAMAMOTO K, SATO H, FUJIYAMA Y, et al. Contribution of two missense mutations (G71R and Y486D) of the bilirubin UDP gly- cosyltransferase(UGT1A1 ) gene to phenotypes of Gilbert's syn- drome and Crigler-Najjar syndrome type 1] [ J ]. Biochim Biophys Acta, 1998,1406 ( 3 ) : 267 -273.
  • 10KO J S,CHANG J Y,MOON J S,et al. Molecular analysis of the UGT1A1 gene in Korean patients with Crigler-Najjar syndrome type ]I [ J ]. Pediatr Gastroenterol Hepatol Nutr,2014 17 ( 1 ) :37- dO.

引证文献3

二级引证文献7

中华实用儿科临床杂志
2014年 第3期

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部