遗传性易栓症的表型和基因诊断流程

摘要/Abstract

中图分类号:

R446.11

丁秋兰, 王学锋. 遗传性易栓症的表型和基因诊断流程[J]. 诊断学理论与实践, 2019, 18(2): 127-132.

图/表1

参考文献40

[1]	Patel K, Fasanya A, Yadam S, et al. Pathogenesis and Epidemiology of Venous Thromboembolic Disease[J]. Crit Care Nurs Q, 2017, 40(3):191-200.
[2]	Heit JA. Thrombophilia: common questions on laboratory assessment and management[J]. Hematology Am Soc Hematol Educ Program, 2007:127-135.
[3]	Law Y, Chan YC, Cheng SWK. Epidemiological updates of venous thromboembolism in a Chinese population[J]. Asian J Surg, 2018, 41(2):176-182.
[4]	杨媛华. 提高我国肺血栓栓塞症诊疗水平的系列研究——2008年度国家科学技术进步二等奖[J]. 首都医科大学学报, 2009, 30(1):5-7.
[5]	Angchaisuksiri P. Venous thromboembolism in Asia--an unrecognised and under-treated problem?[J]. Thromb Haemost, 2011, 106(4):585-590.
[6]	Ding Q, Wang M, Xu G, et al. Molecular basis and thrombotic manifestations of antithrombin deficiency in 15 unrelated Chinese patients[J]. Thromb Res, 2013, 132(3):367-373.
[7]	Ding Q, Shen W, Ye X, et al. Clinical and genetic features of protein C deficiency in 23 unrelated Chinese patients[J]. Blood Cells Mol Dis, 2013, 50(1):53-58.
[8]	Li L, Wu X, Wu W, et al. Clinical Manifestation and Mutation Spectrum of 53 Unrelated Pedigrees with Protein S Deficiency in China[J]. Thromb Haemost, 2019, 119(3):449-460.
[9]	Lee EJ, Dykas DJ, Leavitt AD, et al. Whole-exome sequencing in evaluation of patients with venous thromboembolism[J]. Blood Adv, 2017, 1(16):1224-1237.
[10]	Stearns-Kurosawa DJ, Kurosawa S, Mollica JS, et al. The endothelial cell protein C receptor augments protein C activation by the thrombin-thrombomodulin complex[J]. Proc Natl Acad Sci U S A, 1996, 93(19):10212-10216.
[11]	Griffin JH, Evatt B, Zimmerman TS, et al. Deficiency of protein C in congenital thrombotic disease[J]. J Clin Invest, 1981, 68(5):1370-1373.
[12]	Schwarz HP, Fischer M, Hopmeier P, et al. Plasma protein S deficiency in familial thrombotic disease[J]. Blood, 1984, 64(6):1297-1300.
[13]	Tang L, Wang HF, Lu X, et al. Common genetic risk factors for venous thrombosis in the Chinese population[J]. Am J Hum Genet, 2013, 92(2):177-187.
[14]	Saposnik B, Reny JL, Gaussem P, et al. A haplotype of the EPCR gene is associated with increased plasma leve-ls of sEPCR and is a candidate risk factor for thrombosis[J]. Blood, 2004, 103(4):1311-1318.
[15]	Bertina RM, Koeleman BP, Koster T, et al. Mutation in blood coagulation factor V associated with resistance to activated protein C[J]. Nature, 1994, 369(6475):64-67.
[16]	Buchanan GS, Rodgers GM, Ware Branch D. The inheri-ted thrombophilias: genetics, epidemiology, and laboratory evaluation[J]. Best Pract Res Clin Obstet Gynaecol, 2003, 17(3):397-411.
[17]	Egeberg O. Inherited antithrombin deficiency causing thrombophilia[J]. Thromb Diath Haemorrh, 1965, 13:516-530.
[18]	Bernardi F, Legnani C, Micheletti F, et al. A heparin cofactor II mutation (HCII Rimini) combined with factor V Leiden or type I protein C deficiency in two unrelated thrombophilic subjects[J]. Thromb Haemost, 1996, 76(4):505-509.
[19]	Dziadosz M1, Baxi LV. Global prevalence of prothrombin gene mutation G20210A and implications in women's health: a systematic review[J]. Blood Coagul Fibrinolysis, 2016, 27(5):481-489.
[20]	Takagi Y, Murata M, Kozuka T, et al. Missense mutations in the gene encoding prothrombin corresponding to Arg596 cause antithrombin resistance and thrombomo-dulin resistance[J]. Thromb Haemost, 2016, 116(6):1022-1031.
[21]	Segers O, Simioni P, Tormene D, et al. Genetic modulation of the FV(Leiden)/normal FV ratio and risk of venous thrombosis in factor V Leiden heterozygotes[J]. J Thromb Haemost, 2012, 10(1):73-80.
[22]	Mannucci PM, Franchini M. Classic thrombophilic gene variants[J]. Thromb Haemost, 2015, 114(5):885-889.
[23]	Steen M, Norstrom EA, Tholander AL, et al. Functional characterization of factor V-Ile359Thr: a novel mutation associated with thrombosis[J]. Blood, 2004, 103(9):3381-3387.
[24]	Castoldi E. FⅤ and APC resistance: the plot thickens[J]. Blood, 2014, 123(15):2288-2889.
[25]	Simioni P1, Tormene D, Tognin G, et al. X-linked thrombophilia with a mutant factor IX (factor IX Padua)[J]. N Engl J Med, 2009, 361(17):1671-1675.
[26]	Ichinose A, Espling ES, Takamatsu J, et al. Two types of abnormal genes for plasminogen in families with a predisposition for thrombosis[J]. Proc Natl Acad Sci U S A, 1991, 88(1):115-119.
[27]	Shigekiyo T, Yoshida H, Matsumoto K, et al. HRG Tokushima: molecular and cellular characterization of histidine-rich glycoprotein(HRG) deficiency[J]. Blood, 1998, 91(1):128-133.
[28]	Moatti D, Haidar B, Fumeron F, et al. A new T-287C polymorphism in the 5' regulatory region of the tissue factor pathway inhibitor gene. Association study of the T-287C and C-399T polymorphisms with coronary artery disease and plasma TFPI levels[J]. Thromb Haemost, 2000, 84(2):244-249.
[29]	Connors JM. Thrombophilia Testing and Venous Thrombosis[J]. N Engl J Med, 2017, 377(23):2298.
[30]	中华医学会血液学分会血栓与止血学组. 易栓症诊断中国专家共识(2012年版)[J]. 中华血液学杂志, 2012, 33(11):982.
[31]	包承鑫. 遗传性易栓症的诊断[J]. 诊断学理论与实践, 2006, 5(5):452-454.
[32]	《中国血栓性疾病防治指南》专家委员会. 中国血栓性疾病防治指南[J]. 中华医学杂志, 2018, 98(36):2861-2888.
[33]	王鸿利, 王学锋. 遗传性易栓症的规范化诊断[C]. 华东地区血液学学术会议暨江苏省第十三次血液学学术会议, 2009.
[34]	Huisman MV, Klok FA. Diagnostic management of acute deep vein thrombosis and pulmonary embolism[J]. J Thromb Haemost, 2013, 11(3):412-422.
[35]	Miyakis S, Lockshin MD, Atsumi T, et al. International consensus statement on an update of the classification criteria for definite antiphospholipid syndrome(APS)[J]. J Thromb Haemost, 2006, 4(2):295-306.
[36]	Keeling D, Mackie I, Moore GW, et al. Guidelines on the investigation and management of antiphospholipid syndrome[J]. Br J Haematol, 2012, 157(1):47-58.
[37]	Ding Q, Yang L, Dinarvand P, et al. Protein C Thr315Ala variant results in gain of function but manifests as type II deficiency in diagnostic assays[J]. Blood, 2015, 125(15):2428-2434.
[38]	Yin T, Takeshita S, Sato Y, et al. A large deletion of the PROS1 gene in a deep vein thrombosis patient with protein S deficiency[J]. Thromb Haemost, 2007, 98(4):783-789.
[39]	Choung HS, Kim HJ, Gwak GY, et al. Inherited protein S deficiency as a result of a large duplication mutation of the PROS1 gene detected by multiplex ligation-dependent probe amplification[J]. J Thromb Haemost, 2008, 6(8):1430-1432.
[40]	Zhang X, Xu Y, Liu D, et al. A modified multiplex ligation-dependent probe amplification method for the detection of 22q11.2 copy number variations in patients with congenital heart disease[J]. BMC genomics, 2015, 16:364.

遗传性易栓症的表型和基因诊断流程

RichHTML

PDF (PC)

可视化

摘要/Abstract

引用本文

使用本文

图/表1

参考文献40

相关文章14

编辑推荐

Metrics

本文评价

[1]	陈乐, 黄婷, 谢梦琦, 陆文丽, 马晓宇, 王歆琼, 许春娣, 李卫,.幼年型粒单核细胞白血病2例报道及文献复习[J]. 诊断学理论与实践, 2015, 14(03): 235-238.
[2]	吕建新, 张杰,.线粒体遗传性疾病的基因诊断[J]. 诊断学理论与实践, 2013, 12(04): 381-386.
[3]	王伟,.遗传性代谢疾病的临床检测与基因诊断[J]. 诊断学理论与实践, 2013, 12(04): 401-405.
[4]	余永国,.染色体基因芯片分析技术在不明原因智力落后诊断中的应用——附500例基因芯片结果分析[J]. 诊断学理论与实践, 2013, 12(04): 387-389.
[5]	李春光, 李志刚, 陈和忠, 苏长青,.食管癌诊断治疗的重要靶标Survivin[J]. 诊断学理论与实践, 2011, 10(06): 571-574.
[6]	包承鑫,.遗传性易栓症实验诊断中的若干问题[J]. 诊断学理论与实践, 2011, 10(02): 109-112.
[7]	顾鸣敏,.人类遗传性疾病基因诊断的回顾与展望[J]. 诊断学理论与实践, 2010, 9(05): 420-423.
[8]	陆晔玲, 丁秋兰, 戴菁, 谢炳寿, 王明山, 奚晓东, 王鸿利, 王学锋,.同时存在血友病A及血友病B患者家系的基因诊断[J]. 诊断学理论与实践, 2010, 9(05): 443-448.
[9]	李磊, 杨涛, 吴皓,.耳聋基因的筛查与诊断[J]. 诊断学理论与实践, 2010, 9(05): 409-412.
[10]	陆晔玲, 丁秋兰, 戴菁, 王鸿利, 奚晓东, 王学锋,.FⅧ基因内含子1倒位及X染色体非随机灭活导致的女性血友病A1例[J]. 诊断学理论与实践, 2008, 7(03): 286-290.
[11]	宁光.重视内分泌代谢病的基因检测[J]. 诊断学理论与实践, 2003, 2(02): 5-6.
[12]	胡敏.营养不良性心脏钙化基因诊断的研究进展[J]. 诊断学理论与实践, 2002, 1(04): 66-67.
[13]	丁培芳.血友病A基因诊断和产前诊断技术的研究进展[J]. 诊断学理论与实践, 2002, 1(02): 60-62.
[14]	王鸿利,储海燕,王学锋.血友病基因诊断的研究现状[J]. 诊断学理论与实践, 2002, 1(02): 11-14.