Detection of known thalassemia point mutations by snapback single-strand conformation polymorphism: The feasibility analysis

Clinical Biochemistry

Volumn 39, Issue 8, 2006, Pages 833-842

  Li, Wei ^a   Gao, Feng ^a   Tang, Weizhong ^a   Zhang, Xuerong ^a   Zhang, Haitian ^a  

^a GUANGXI MEDICAL UNIVERSITY   (China)

Author keywords

Thalassemia; Thalassemia; Haemoglobinopathy; Monogenic disease; PAGE; PCR; Point mutation; Prenatal diagnosis; Silver stain; SSCP

Indexed keywords

ARTICLE; DIAGNOSTIC ACCURACY; FEASIBILITY STUDY; GENETIC SCREENING; HETEROZYGOTE DETECTION; POINT MUTATION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; THALASSEMIA;

BASE SEQUENCE; DNA PRIMERS; ELECTROPHORESIS, POLYACRYLAMIDE GEL; FALSE NEGATIVE REACTIONS; FALSE POSITIVE REACTIONS; FEASIBILITY STUDIES; HUMANS; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SILVER STAINING; THALASSEMIA;

EID: 33746881043     PISSN: 00099120     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.clinbiochem.2006.05.004     Document Type: Article

References (14)

1. Saiki R.K., Bugawan T.L., Horn G.T., Mullis K.B., and Erlich H.A. Analysis of enzymatically amplified β-globin and HLA-DQ alpha DNA with allele-specific oligonucleotide probes. Nature 324 (1986) 163-166
2. Saiki R.K., Walsh P.S., Levenson C.H., and Erlich H.A. Genetic analysis of amplified DNA with immobilized sequence-specific oligonucleotide probes. Proc. Natl. Acad. Sci. U. S. A. 86 16 (1989) 6230-6234
3. Newton C.R., Graham A., Heptinstall L.E., et al. Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). Nucleic Acids Res 17 (1989) 2503-2516
4. Barany F. Genetic disease detection and DNA amplification using cloned thermostable ligase. Proc. Natl. Acad. Sci. U. S. A. 88 (1991) 189-193
5. Pirastu M., Ristaldi M.S., and Cao A. Prenatal diagnosis of beta thalassemia based on restriction endonuclease analysis of amplified fetal DNA. J Med Genet 26 (1989) 363-367
6. Drobyshev A., Mologina N., Shik V., Pobedimskaya D., Yershov G., and Mirzabekov A. Sequence analysis by hybridization with oligonucleotide microchip: identification of beta-thalassemia mutations. Gene 188 (1997) 45-52
7. Losekoot M., Fodde R., Harteveld C.L., van Heeren H., Giordano P.C., and Bernini L.F. Denaturing gradient gel electrophoresis and direct sequencing of PCR amplified genomic DNA: a rapid and reliable diagnostic approach to beta thalassaemia. Br. J. Haematol. 76 (1990) 269-274
8. Huber C.G., Premstaller A., Xiao W., Oberacher H., Bonn G.K., and Oefner P.J. Mutation detection by capillary denaturing high-performance liquid chromatography using monolithic columns. J. Biochem. Biophys. Methods 47 (2001) 5-19
9. Orita M., Iwahana H., Kanazawa H., Hayashi K., and Sekiya T. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc. Natl. Acad. Sci. U. S. A. 86 (1989) 2766-2770
10. Wilton S.D., Honeyman K., Fletcher S., and Laing N.G. Snapback SSCP analysis: engineered conformation changes for the rapid typing of known mutations. Hum. Mutat. 11 (1998) 252-268
11. Li W., Gao F., Liang J.L., Li C.S., et al. Estimation of the optimal electrophoretic temperature of DNA single strand conformation by DNA base composition. Electrophoresis 24 (2003) 2283-2289
12. Bassam B.J., Caetano-Anolles G., and Gresshoff P.M. Fast and sensitive silver staining of DNA in polyacrylamide gels. Anal. Biochem. 196 (1991) 80-83
13. Boutin P., Vasseur F., Samson C., Wahl C., and Froguel P. Routine mutation screening of HNF-1alpha and GCK genes in MODY diagnosis: how effective are the techniques of DHPLC and direct sequencing used in combination?. Diabetologia 44 (2001) 775-778
14. Mogensen J., Bahl A., Kubo T., Elanko N., Taylor R., and McKenna W.J. Comparison of fluorescent SSCP and denaturing HPLC analysis with direct sequencing for mutation screening in hypertrophic cardiomyopathy. J Med Genet 40 (2003) e59