Development of a Reliable PCR-RFLP Assay for Investigation of the JAK2 rs10974944 SNP, Which Might Predispose to the Acquisition of Somatic Mutation JAK2V617F

被引：13

作者：

Trifa, Adrian P. ^{[1
]}

Cucuianu, Andrei ^{[2
]}

Popp, Radu A. ^{[1
]}

机构：

[1] Iuliu Hatieganu Univ Med & Pharm, Dept Med Genet, RO-400349 Cluj Napoca, Romania

[2] Ion Chiricuta Canc Inst, Div Haematol, Cluj Napoca, Romania

来源：

ACTA HAEMATOLOGICA | 2010年 / 123卷 / 02期

关键词：

TYROSINE KINASE JAK2; POLYCYTHEMIA-VERA; V617F MUTATION; HAPLOTYPE;

D O I：

10.1159/000264954

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

[No abstract available]

引用

页码：84 / 87

页数：4

共 11 条

[1] Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders [J].

Baxter, EJ ;

Scott, LM ;

Campbell, PJ ;

East, C ;

Fourouclas, N ;

Swanton, S ;

Vassiliou, GS ;

Bench, AJ ;

Boyd, EM ;

Curtin, N ;

Scott, MA ;

Erber, WN ;

Green, AR .

LANCET, 2005, 365 (9464) :1054-1061

[2] A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera [J].

James, C ;

Ugo, V ;

Le Couédic, JP ;

Staerk, J ;

Delhommeau, F ;

Lacout, C ;

Garçon, L ;

Raslova, H ;

Berger, R ;

Bennaceur-Griscelli, A ;

Villeval, JL ;

Constantinescu, SN ;

Casadevall, N ;

Vainchenker, W .

NATURE, 2005, 434 (7037) :1144-1148

[3] JAK2 haplotype is a major risk factor for the development of myeloproliferative neoplasms [J].

Jones, Amy V. ;

Chase, Andrew ;

Silver, Richard T. ;

Oscier, David ;

Zoi, Katerina ;

Wang, Y. Lynn ;

Cario, Holger ;

Pahl, Heike L. ;

Collins, Andrew ;

Reiter, Andreas ;

Grand, Francis ;

Cross, Nicholas C. P. .

NATURE GENETICS, 2009, 41 (04) :446-449

[4] Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders [J].

Jones, AV ;

Kreil, S ;

Zoi, K ;

Waghorn, K ;

Curtis, C ;

Zhang, LY ;

Score, J ;

Seear, R ;

Chase, AJ ;

Grand, FH ;

White, H ;

Zoi, C ;

Loukopoulos, D ;

Terpos, E ;

Vervessou, EC ;

Schultheis, B ;

Emig, M ;

Ernst, T ;

Lengfelder, E ;

Hehlmann, R ;

Hochhaus, A ;

Oscier, D ;

Silver, RT ;

Reiter, A ;

Cross, NCP .

BLOOD, 2005, 106 (06) :2162-2168

[5] A germline JAK2 SNP is associated with predisposition to the development of JAK2V617F-positive myeloproliferative neoplasms [J].

Kilpivaara, Outi ;

Mukherjee, Semanti ;

Schram, Alison M. ;

Wadleigh, Martha ;

Mullally, Ann ;

Ebert, Benjamin L. ;

Bass, Adam ;

Marubayashi, Sachie ;

Heguy, Adriana ;

Garcia-Manero, Guillermo ;

Kantarjian, Hagop ;

Offit, Kenneth ;

Stone, Richard M. ;

Gilliland, D. Gary ;

Klein, Robert J. ;

Levine, Ross L. .

NATURE GENETICS, 2009, 41 (04) :455-459

[6] A gain-of-function mutation of JAK2 in myeloproliferative disorders [J].

Kralovics, R ;

Passamonti, F ;

Buser, AS ;

Teo, S ;

Tiedt, R ;

Passweg, JR ;

Tichelli, A ;

Cazzola, M ;

Skoda, RC .

NEW ENGLAND JOURNAL OF MEDICINE, 2005, 352 (17) :1779-1790

[7] Acquisition of the V617F mutation of JAK2 is a late genetic event in a subset of patients with myeloproliferative disorders [J].

Kralovics, Robert ;

Teo, Soon-Siong ;

Li, Sai ;

Theocharides, Alexandre ;

Buser, Andreas S. ;

Tichelli, Andre ;

Skoda, Radek G. .

BLOOD, 2006, 108 (04) :1377-1380

[8] Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis [J].

Levine, RL ;

Wadleigh, M ;

Cools, J ;

Ebert, BL ;

Wernig, G ;

Huntly, BJP ;

Boggon, TJ ;

Wlodarska, L ;

Clark, JJ ;

Moore, S ;

Adelsperger, J ;

Koo, S ;

Lee, JC ;

Gabriel, S ;

Mercher, T ;

D'Andrea, A ;

Fröhling, S ;

Döhner, K ;

Marynen, P ;

Vandenberghe, P ;

Mesa, RA ;

Tefferi, A ;

Griffin, JD ;

Eck, MJ ;

Sellers, WR ;

Meyerson, M ;

Golub, TR ;

Lee, SJ ;

Gilliland, DG .

CANCER CELL, 2005, 7 (04) :387-397

[9] Polycythemia vera is not initiated by JAK2V17F mutation [J].

Nussenzveig, Roberto H. ;

Swierczek, Sabina I. ;

Jelinek, Jaroslav ;

Gaikwad, Amos ;

Liu, Enli ;

Verstovsek, Srdan ;

Prchal, Jaroslav F. ;

Prchal, Josef T. .

EXPERIMENTAL HEMATOLOGY, 2007, 35 (01) :32-38

[10] A common JAK2 haplotype confers susceptibility to myeloproliferative neoplasms [J].

Olcaydu, Damla ;

Harutyunyan, Ashot ;

Jaeger, Roland ;

Berg, Tiina ;

Gisslinger, Bettina ;

Pabinger, Ingrid ;

Gisslinger, Heinz ;

Kralovics, Robert .

NATURE GENETICS, 2009, 41 (04) :450-454

← 1 2 →