Mutational scanning of large genes by extensive PCR multiplexing and two-dimensional electrophoresis: Application to the RB1 gene

Human Molecular Genetics

Volumn 5, Issue 6, 1996, Pages 755-761

  Van Orsouw, Nathalie J ^a   Li, Daizong ^a   Van Der Vlies, Pieter ^b   Scheffer, Hans ^b   Eng, Charis ^a   Buys, Charles H C M ^b   Li, Frederick P ^a   Vijg, Jan ^a  

^a HARVARD MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF GRONINGEN   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CONTROLLED STUDY; EXON; GENE MUTATION; HUMAN; HUMAN TISSUE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINOBLASTOMA; TUMOR SUPPRESSOR GENE; TWO DIMENSIONAL ELECTROPHORESIS;

DNA MUTATIONAL ANALYSIS; ELECTROPHORESIS, GEL, TWO-DIMENSIONAL; EXONS; GENES, TUMOR SUPPRESSOR; HUMANS; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RETINOBLASTOMA; RETINOBLASTOMA PROTEIN;

EID: 0029943489     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.6.755     Document Type: Article

References (26)

1. Friend, S.H., Bernards, R., Rogelj, S., Weinberg, R.A., Rapaport, J.M., Albert, D.M. and Dryja, T.P. (1986) A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma. Nature, 323, 643-646.
2. Riordan, J.R., Rommens, J.M., Kerem, B.-S., Alon, N., Rozmahel, R., Grzelczak, Z., Zielinski, J., Lok, S., Plavsic, N., Chou, J.-L., Drumm, M.I., Ianuzzi, M.C., Collins, F.S. and Tsui, L.-C. (1989) Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science, 245, 1066-1072.
3. Rommens, J.M., lannuzzi, M.C., Kerem, B.-S., Drumm, M.L., Melmer, G., Dean, M., Rozmahel, R., Cole, J.L., Kennedy, D., Hidaka, N., Zsiga, M., Buchwald. M., Riordan, J.R., Tsui, L.-P., and Collins, F.S. (1989) Identification of the cystic fibrosis gene: chromosome walking and jumping. Science, 245, 1059-1064.
4. Fishel, R., Lescoe, M.K., Rao, M.R.S., Copeland, N.G. et al. (1993) The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell, 75, 1027-1038.
5. Nicolaides, N.C., Papadopoulos, N., Liu, B., Wei, Y-F., Carter, K.C. et al. (1994) Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. Nature, 371, 75-80.
6. Miki, Y., Swensen, J., Shattuck-Eidens, D., Futreal P.A., Harshman, K., Tavtigian, S., Liu, Q. et al. (1994) A strong candidate for the breast and ovarian cancer susceptibility gene BRCAI. Science, 266, 66-71.
7. Shuber, A.P., Skoletsky, J., Stern. R. and Handelin, B.L. (1993) Efficient 12-mutation testing in the CFTK gene: a general model for complex mutation analysis. Hum. Mol Genet., 2, 153-158.
8. Chamberlain, J.S., Gibbs, R.A., Ranier, J.E., Nguyen, P.N. and Caskey, C.T. (1988) Deletion screening of the Duchenne muscular dystrophy locus via multiples DNA amplification. Nucleic Acids Res., 16, 11141-11156.
9. Beggs, A.M., Koenig, M., Boyce, F.M. and Kunkel, L.M. (1990) Detection of 98% DMD/BMD gene deletions by PCR. Hum. Genet., 86, 45-48.
10. Cotton, R.G.H. (1993) Current methods of mutation detection. Mutat. Res., 285, 125-144.
11. Sheffield, V.C., Beck, J.S., Kwitek, A.E., Sandstrom, D.W. and Stone, E.M. (1993) The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions. Genomics, 16, 325-332.
12. Guldberg, P., Henriksen, K.F. and Guttler, F. (1993) Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis. Genomics, 17, 141-146.
13. Moyret, C., Theillet, C., Puig, P.L., Moles, J.-P., Thomas, G. and Hamelin, R. (1994) Relative efficiency of denaturing gradient gel electrophoresis and single strand conformation polymorphism in the detection of mutations in exons 5 to 8 of the p53 gene. Oncogene, 9, 1739-1743.
14. Myers, R.M., Fischer, S.G., Lerman, L.S. and Maniatis, T. (1985) Nearly all single base substitutions in DNA fragments joined to a GC-clamp can be detected by denaturing gradient gel electrophoresis. Nucleic Acids Res., 13, 3131-3145.
15. Sheffield, V.C., Cox, D.R., Lerman, L.S. and Myers, R.M. (1989) Attachment of a 40-base-pair G+C-rich sequence (GC-clamp) to genornic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes. Proc. Nail Acad. Sci. USA, 86, 232-236.
16. Abrams, E.S., Murdaugh, S.E. and Lerman, L.S. (1990) Comprehensive detection of single base changes in human genomic DNA using denaturing gradient gel electrophoresis and a GC clamp. Genomics, 7, 463-475.
17. Wu, Y., Hofstra, R., Scheffer, H., Uitterlinden, A.G., Mullaart, E., Buys, C.H.C.M. and Vijg, J. (1995) Comprehensive and accurate mutation scanning of the CFTR-gene by two-dimensional DNA electrophoresis. Hum. Mutat., in press.
18. Li, D. and Vijg, J. (1996) Multiplex co-amplification of 24 retinoblastoma gene exons after pre-amplification by long-distance PCR. Nucleic Acids Res., 24, 538-539.
19. Toguchida, J., McGee, T.L., Paterson, J.C., Eagle, J.R., Tucker, S., Yandell, D.W. and Dryja, T.P. (1993) Complete genomic sequence of the human retinoblastoma susceptibility gene. Genomics, 17, 535-543.
20. Blanquet, V., Turleau, C., Gross, M.-S., Goossens, M. and Besmond, C. (1993) Identification of germline mutations in the RBI gene by denaturant gradient gel electrophoresis and polymerase chain reaction direct sequencing. Hum. Mol. Genet., 2, 975-979.
21. Lohmann, D.R., Brandt, B., Hopping, W., Passarge, E. and Horsthemke, B. (1994) Spectrum of small length germline mutations in the RBI gene. Hum. Mol. Genet., 3, 2187-2193.
22. Foord, O.S. and Rose, E.A. (1994) Long-distance PCR. PCR Methods and Applications, 3, S149-S161.
23. Myers, R.M., Maniatis, T. and Lerman, L.S. (1987) Detection and localization of single base changes by denaturing gradient gel electrophoresis. Methods Enzymol., 155, 501-527.
24. Lerman, L.S. and Silverstein, K. (1987) Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis. Methods Enzymol, 155, 482-501.
25. Costes, B., Fanen, P., Goossens, M. and Ghanem, N. (1993) A rapid, efficient, and sensitive assay for simultaneous detection of multiple cystic fibrosis mutations. Hum. Mutat., 2, 185-191.
26. Mullaart, E., de Vos, G.J., te Meerman, G.J., Uitterlinden, A.G. and Vijg, J. (1993) Parallel genome analysis by two-dimensional DNA typing. Nature, 365, 469-471.