Single-tube polymerase chain reaction for rapid diagnosis of the inversion hotspot of mutation in hemophilia A

被引:173
作者
Liu, Q [1 ]
Nozari, G [1 ]
Sommer, SS [1 ]
机构
[1] City Hope Natl Med Ctr, Beckman Res Inst, Dept Mol Genet, Duarte, CA 91010 USA
关键词
D O I
10.1182/blood.V92.4.1458.splL4_1458_1459
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:1458 / 1459
页数:2
相关论文
共 6 条
[1]   FACTOR-VIII GENE INVERSIONS IN SEVERE HEMOPHILIA-A - RESULTS OF AN INTERNATIONAL CONSORTIUM STUDY [J].
ANTONARAKIS, SE ;
ROSSITER, JP ;
YOUNG, M ;
HORST, J ;
DEMOERLOOSE, P ;
SOMMER, SS ;
KETTERLING, RP ;
KAZAZIAN, HH ;
NEGRIER, C ;
VINCIGUERRA, C ;
GITSCHIER, J ;
GOOSSENS, M ;
GIRODON, E ;
GHANEM, N ;
PLASSA, F ;
LAVERGNE, JM ;
VIDAUD, M ;
COSTA, JM ;
LAURIAN, Y ;
LIN, SW ;
LIN, SR ;
SHEN, MC ;
LILLICRAP, D ;
TAYLOR, SAM ;
WINDSOR, S ;
VALLEIX, SV ;
NAFA, K ;
SULTAN, Y ;
DELPECH, M ;
VNENCAKJONES, CL ;
PHILLIPS, JA ;
LJUNG, RCR ;
KOUMBARELIS, E ;
GIALERAKI, A ;
MANDALAKI, T ;
JENKINS, PV ;
COLLINS, PW ;
PASI, KJ ;
GOODEVE, A ;
PEAKE, I ;
PRESTON, FE ;
SCHWARTZ, M ;
SCHEIBEL, E ;
INGERSLEV, J ;
COOPER, DN ;
MILLAR, DS ;
KAKKAR, VV ;
GIANNELLI, F ;
NAYLOR, JA ;
TIZZANO, EF .
BLOOD, 1995, 86 (06) :2206-2212
[2]   PCR AMPLIFICATION OF UP TO 35-KB DNA WITH HIGH-FIDELITY AND HIGH-YIELD FROM LAMBDA-BACTERIOPHAGE TEMPLATES [J].
BARNES, WM .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1994, 91 (06) :2216-2220
[3]   PARAMETERS AFFECTING THE YIELD OF DNA FROM HUMAN-BLOOD [J].
GUSTAFSON, S ;
PROPER, JA ;
BOWIE, EJW ;
SOMMER, SS .
ANALYTICAL BIOCHEMISTRY, 1987, 165 (02) :294-299
[4]   INVERSIONS DISRUPTING THE FACTOR-VIII GENE ARE A COMMON-CAUSE OF SEVERE HEMOPHILIA-A [J].
LAKICH, D ;
KAZAZIAN, HH ;
ANTONARAKIS, SE ;
GITSCHIER, J .
NATURE GENETICS, 1993, 5 (03) :236-241
[5]   Overlapping PCR for bidirectional PCR amplification of specific alleles: A rapid one-tube method for simultaneously differentiating homozygotes and heterozygotes [J].
Liu, Q ;
Thorland, EC ;
Heit, JA ;
Sommer, SS .
GENOME RESEARCH, 1997, 7 (04) :389-398
[6]  
OCHMAN H, 1988, GENETICS, V120, P621