A rapid method for haemophilia B mutation detection using conformation sensitive gel electrophoresis

被引：40

作者：

Hinks, JL ^{[1
]}

Winship, PR ^{[1
]}

Makris, M ^{[1
]}

Preston, FE ^{[1
]}

Peake, IR ^{[1
]}

Goodeve, AC ^{[1
]}

机构：

[1] Univ Sheffield, Div Mol & Genet Med, Royal Hallamshire Hosp, Sheffield S10 2JF, S Yorkshire, England

来源：

BRITISH JOURNAL OF HAEMATOLOGY | 1999年 / 104卷 / 04期

关键词：

D O I：

10.1046/j.1365-2141.1999.01274.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Conformation sensitive gel electrophoresis (CSGE) was confirmed as an effective procedure for screening the factor TX (FIX) gene by detecting 10/10 previously known FM gene mutations. The FD: genes of a further 11 haemophilia B patients with unknown mutations were then screened and an abnormal CSGE profile was identified in all cases. Subsequent DNA sequencing demonstrated one of these to be a novel mutation (31133insT, Arg338Fs), the remaining 10 having been previously reported on the haemophilia B database. Mutation screening of the FM gene using CSGE was demonstrated to be a rapid and efficient means of carrier analysis in families with haemophilia B.

引用

收藏

页码：915 / 918

页数：4

相关论文

共 12 条

[1] CONFORMATION-SENSITIVE GEL-ELECTROPHORESIS FOR RAPID DETECTION OF SINGLE-BASE DIFFERENCES IN DOUBLE-STRANDED PCR PRODUCTS AND DNA FRAGMENTS - EVIDENCE FOR SOLVENT-INDUCED BENDS IN DNA HETERODUPLEXES [J].

GANGULY, A ;

ROCK, MJ ;

PROCKOP, DJ .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1993, 90 (21) :10325-10329

[2] Haemophilia B: database of point mutations and short additions and deletions - eighth edition [J].

Giannelli, F ;

Green, PM ;

Sommer, SS ;

Poon, MC ;

Ludwig, M ;

Schwaab, A ;

Reitsma, PH ;

Goossens, M ;

Yoshioka, A ;

Figueiredo, MS ;

Brownlee, GG .

NUCLEIC ACIDS RESEARCH, 1998, 26 (01) :265-268

[3] Advances in carrier detection in haemophilia [J].

Goodeve, AC .

HAEMOPHILIA, 1998, 4 (04) :358-364

[4]

GOODEVE AC, 1997, HAEMOPHILIA, P63

[5] Conformation sensitive gel electrophoresis for simple and accurate detection of mutations:: Comparison with denaturing gradient gel electrophoresis and nucleotide sequencing [J].

Körkkö, J ;

Annunen, S ;

Pihlajamaa, T ;

Prockop, DJ ;

Ala-Kokko, L .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1998, 95 (04) :1681-1685

[6] Comparison of conformation-sensitive gel electrophoresis and single-strand conformation polymorphism analysis for detection of mutations in the BRCA1 gene using optimized conformation analysis protocols [J].

Markoff, A ;

Sormbroen, H ;

Bogdanova, N ;

Preisler-Adams, S ;

Ganev, V ;

Dworniczak, B ;

Horst, J .

EUROPEAN JOURNAL OF HUMAN GENETICS, 1998, 6 (02) :145-150

[7] DIRECT DETECTION OF POINT MUTATIONS BY MISMATCH ANALYSIS - APPLICATION TO HAEMOPHILIA-B [J].

MONTANDON, AJ ;

GREEN, PM ;

GIANNELLI, F ;

BENTLEY, DR .

NUCLEIC ACIDS RESEARCH, 1989, 17 (09) :3347-3358

[8]

SAAD S, 1994, THROMB HAEMOSTASIS, V71, P563

[9] DETECTION OF A MOLECULAR DEFECT IN 40 OF 44 PATIENTS WITH HEMOPHILIA-B BY PCR AND DENATURING GRADIENT GEL-ELECTROPHORESIS [J].

TARTARY, M ;

VIDAUD, D ;

PIAO, YC ;

COSTA, JM ;

BAHNAK, BR ;

FRESSINAUD, E ;

CONGARD, B ;

LAURIAN, Y ;

MEYER, D ;

LAVERGNE, JM .

BRITISH JOURNAL OF HAEMATOLOGY, 1993, 84 (04) :662-669

[10] Precise carrier diagnosis in families with haemophilia A: Use of conformation sensitive gel electrophoresis for mutation screening and polymorphism analysis [J].

Williams, IJ ;

Abuzenadah, A ;

Winship, PR ;

Preston, FE ;

Dolan, G ;

Wright, J ;

Peake, IR ;

Goodeve, AC .

THROMBOSIS AND HAEMOSTASIS, 1998, 79 (04) :723-726