Fast and efficient mutation detection method using multiplex PCR and cycle sequencing - Application to haemophilia B

被引:19
作者
Costa, JM
Ernault, P
Vidaud, D
Vidaud, M
Meyer, D
Lavergne, JM
机构
[1] Hop Bicetre, INSERM, U143, F-94275 Le Kremlin Bicetre, France
[2] Hop Bicetre, Haematol Dept APHP, F-94275 Le Kremlin Bicetre, France
[3] Univ Paris 05, Fac Pharm, Paris, France
[4] Amer Hosp Paris, Mol Biol Lab, Neuilly, France
关键词
haemophilia B; FIX gene; mutation screening;
D O I
10.1055/s-0037-1613794
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
A method using multiplex PCR followed by cycle-sequencing has been developed to detect mutations in the FIX pent. The procedure was evaluated in 45 severe or mild haemophilia B patients from 45 unrelated families. At least one deleterious mutation was identified in every haemophiliac demonstrating the efficiency of the method. Furthermore the described procedure offers many advantages compared to other screening detection methods: it is fast (less than 48 h), simple (partly automated) and of relatively low cost (it requires only one PCR).
引用
收藏
页码:244 / 247
页数:4
相关论文
共 17 条
[1]  
BOTTEMA CD, 1989, LANCET, P256
[2]  
Driscoll MC, 1996, AM J HEMATOL, V51, P324, DOI 10.1002/(SICI)1096-8652(199604)51:4<324::AID-AJH13>3.0.CO
[3]  
2-E
[4]   FLUORESCENCE-BASED OLIGONUCLEOTIDE LIGATION ASSAY FOR ANALYSIS OF CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR GENE-MUTATIONS [J].
EGGERDING, FA ;
IOVANNISCI, DM ;
BRINSON, E ;
GROSSMAN, P ;
WINNDEEN, ES .
HUMAN MUTATION, 1995, 5 (02) :153-165
[5]  
Ghanem N., 1993, European Journal of Human Genetics, V1, P144
[6]   Haemophilia B (sixth edition): A database of point mutations and short additions and deletions [J].
Giannelli, F ;
Green, PM ;
Sommer, SS ;
Poon, MC ;
Ludwig, M ;
Schwaab, R ;
Reitsma, PH ;
Goossens, M ;
Yoshioka, A ;
Brownlee, GG .
NUCLEIC ACIDS RESEARCH, 1996, 24 (01) :103-118
[7]   Advances in carrier detection in haemophilia [J].
Goodeve, AC .
HAEMOPHILIA, 1998, 4 (04) :358-364
[8]  
HARIS II, 1994, PCR METH APPL, V3, P268
[9]  
HIGUCHI M, 1990, GENOMICS, V6, P67
[10]  
Montejo JM, 1999, HUM MUTAT, V13, P160, DOI 10.1002/(SICI)1098-1004(1999)13:2<160::AID-HUMU9>3.0.CO