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ANK1基因突变与遗传性球形红细胞增多症 被引量：9

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摘要 遗传性球形红细胞增多症（hereditary spherocytosis,HS）是一种常见的遗传性溶血性疾病,其临床表现为贫血、黄疸和脾肿大,外周血涂片可见球形红细胞。约75%HS为常染色体显性遗传,但仍有约25%的患者无家族史,可能与常染色体隐性遗传或新生突变有关。世界各地都有病例报道,而在北欧和北美地区,HS发病率高达1/2 000[1]。HS分子发病机制是基因突变导致红细胞膜蛋白缺陷[2]。
作者 杨旺 林发全
机构地区 广西医科大学第一附属医院检验科
出处 《广东医学》 CAS 北大核心 2015年第12期1942-1944,共3页 Guangdong Medical Journal
基金 国家自然科学基金资助项目(编号:81360263)
关键词 ANK1 基因突变 红细胞膜蛋白 分子发病机制 球形红细胞 锚蛋白 溶血性疾病 外周血涂片 先证者 移码突变
分类号 R555.1 [医药卫生—血液循环系统疾病]
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参考文献26

  • 1BOLTON MAGGS P H, LANGER J C, IOLASCON A, et al. Guidelines for the diagnosis and management of hereditary spherocy- tosis--2011 update[J]. Br J Haematol, 2012, 156(1) : 37 -49.
  • 2PERROT'FA S, GALLAGHER P G, MOHANDAS N. Hereditary spherocytosis[ J ]. Lancet, 2008, 372 (9647) : 1411 - 1426.
  • 3EBER S W, GONZALEZ J M, LUX M L, et al. Ankyrin - 1 mu- tations are a major cause of dominant and recessive hereditary spher'ytosis[J]. Nat Genet, 1996, 13(2) : 214 -218.
  • 4MIRAGLIA DEL GIUDICE E, NOBILI B, FRANCESE M, et al. Clinical and molecular evaluation of non - dominant hereditary spherocytosis[ J]. Br J Haematol, 2001, 112( 1 ) : 42 -47.
  • 5GALLAGHER P G. Hematologically important mutations: ankyrin variants in hereditary spherocytosis [ J ]. Blood Cells Mol Dis, 2005, 35(3) : 345 -347.
  • 6HUGHES M R, ANDERSON N, MALTBY S, et al. A novel ENU - generated truncation mutation lacking the speetrin -binding and C - terminal regulatory domains of Ankl models severe hemolytic heredi- tary spherocytosis [ J ]. Exp Hematol, 2011 , 39 ( 3 ) : 305 - 320, 320 e301 -302.
  • 7NAKANISHI H, KANZAK1 A, YAWATA A, et al. Ankyrin gene mutations in japanese patients with hereditary spherocytosis [ J ]. Int .] Hematol, 2001, 73(1): 54-63.
  • 8IOLASCON A, AVVISAT1 R A, PISCOPO C. Hereditary sphero- cytosis[J]. Transfus Clin Biol, 2010, 17(3) : 138 - 142.
  • 9RUBTSOV A M, LOP1NA O D. Ankyrins[J]. FEBS Lett, 2000, 482(l/2) : l -5.
  • 10IFSARO J J, HUANG L, MONDRAGON A. Structures of the speetrin -ankyrin interaction binding domains[ J ]. Blood, 2009, 113(22) : 5385 -5393.

二级参考文献21

  • 1DELAUNAY J.The molecular basis of hereditary red cell membrane disorders[J].Blood Rev,2007,21(1):1-20.
  • 2PERROTTA S,GALLAGHER P,MOHANDAS N.Hereditary spherocytosis[J].The Lancet,2008,372(9647):1411-1426.
  • 3GALLAGHER P G,FORGET B G.Hematologically important mutations:band 3 and protein 4.2 variants in hereditary spherocytosis[J].Blood Cell Mol Dis,1997,23(3):417-421.
  • 4INOUE T,KANZAKI A,KAKU M,et al.Homozygous missense mutation (band 3 Fukuoka:G130R):a mild form of hereditary spherocytosis with near-normal band 3 content and minimal changes of membrane ultrastructure despite moderate protein 4.2 deficiency[J].Br J Haematol,1998,102(4):932-939.
  • 5LIMA P R,BARATTI M O,CHIATTONE M L,et al.Band 3Tambau′:a de novo mutation in the AE1 gene associated with hereditary spherocytosis.Implications for anion exchange and insertion into the red blood cell membrane[J].Eur J Haematol,2005,74(5):396-401.
  • 6CHEIDDE L,VIEIRA T C,LIMA P R,et al.A novel mutation in the anion exchanger 1 gene is associated with familial distal renal tubular acidosis and nephrocalcinosis.Pediatrics[J].2003,112(6 Pt 1):1361-1367.
  • 7GALLAGHER P G,FORGET B G.Hematologically important mutations:spectrin and ankyrin variants in hereditary spherocytosis[J].Blood,1998,24(4):539-543.
  • 8BASSèRES D S,DUARTE A S,HASSOUN H,et al.Beta-Spectrin S(ta) Bárbara:a novel frameshift mutation in here-ditary spherocytosis associated with detectable levels of mRNA and a germ cell line mosaicism[J].Br J Haematol,2001,115(2):347-353.
  • 9PERROTTA S,DELLA RAGIONE F,ROSSI F,et al.Beta-spectrin Bari:a truncated beta-chain responsible for dominant hereditary spherocytosis[J].Haematol,2009,94(12):1753-1757.
  • 10DELAUNAY J,NOUYRIGAT V,PROUST A,et al.Different impacts of alleles αLEPRA and αLELY as assessed versus a novel,virtually null allele of the SPTA1 gene in trans[J].Br J Haematol,2004,127(1):118-122.

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广东医学
2015年 第12期

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