Rapid mutation detection in complex genes by heteroduplex analysis with capillary array electrophoresis

Electrophoresis

Volumn 26, Issue 13, 2005, Pages 2539-2552

  Velasco, Eladio ^a   Infante, Mar ^a   Durán, Mercedes ^a   Esteban Cardeñosa, Eva ^a   Lastra, Enrique ^b   García Girón, Carlos ^b   Miner, Cristina ^a  

^a UNIVERSITY OF VALLADOLID   (Spain)

^b HOSPITAL UNIVERSITARIO DE BURGOS   (Spain)

Author keywords

Capillary electrophoresis; Familial breast cancer; Hereditary colorectal cancer; Heteroduplex analysis; Mutation detection

Indexed keywords

CAPILLARY ELECTROPHORESIS; DISEASES; DNA; DNA SEQUENCES; POLYMERASE CHAIN REACTION;

BREAST CANCER; CAPILLARY ARRAY ELECTROPHORESIS; FAMILIAL BREAST CANCER; HEREDITARY COLORECTAL CANCER; HETERODUPLEX ANALYSIS; HIGH-THROUGHPUT SCANNING; HUMAN GENOME PROJECT; MUTATION DETECTION; MUTATIONAL ANALYSIS; SCANNING TECHNIQUES;

GENES;

BRCA1 PROTEIN; BRCA2 PROTEIN; FLUORESCENT DYE; PROTEIN MLH1;

ARTICLE; BREAST CANCER; CANCER FAMILY; CANCER PATIENT; CAPILLARY ELECTROPHORESIS; COLORECTAL CANCER; COLORECTAL TUMOR; CONTROLLED STUDY; DNA CONFORMATION; DNA SEQUENCE; EXON; FEMALE; GEL ELECTROPHORESIS; GENE AMPLIFICATION; GENE DELETION; GENE INSERTION; GENE MUTATION; GENETIC PREDISPOSITION; HETERODUPLEX ANALYSIS; HIGH THROUGHPUT SCREENING; HUMAN; HUMAN GENOME PROJECT; INTRON; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; POLYMERASE CHAIN REACTION; REPRODUCIBILITY; SENSITIVITY AND SPECIFICITY;

EID: 22244461878     PISSN: 01730835     EISSN: None     Source Type: Journal    
DOI: 10.1002/elps.200410425     Document Type: Article

References (30)

1. The American College of Medical Genetics/American Society of Human Genetics Huntington Disease Genetic Testing Working Group, Am. J. Hum. Genet. 1998, 62, 1243-1247.
2. Miki, Y., Swensen, J., Shattuck-Eidens, D., Futreal, P. A., et al., Science 1994, 266, 66-71.
3. Tavtigian, S. V., Simard, J., Rommens, J., Couch, F., Nat. Genet. 1996, 12, 333-337.
4. Velasco-Sampedro, E., Esteban-Cardenosa, E., Infante-Sanz, M., Duran-Dominguez, M., Med. Clin. (Barc.) 2002, 119, 441-445.
5. Duran, M., Esteban-Cardenosa, E., Velasco, E., Infante, M., Miner, C., Hum. Mutat. 2003, 21, 448-448.
6. Orita, M., Iwahana, H., Kanazawa, H., Hayashi, K., Sekiya, T., Proc. Natl. Acad. Sci. USA 1989, 86, 2766-2770.
7. Fischer, S. G., Lerman, L. S., Proc. Natl. Acad. Sci. USA 1983, 80, 1579-1583.
8. Underhill, P. A., Jin, L., Lin, A. A., Mehdi, S. Q., Genome Res. 1997, 7, 996-1005.
9. Ganguly, A., Hum. Mutat. 2002, 19, 334-342.
10. Roest, P. A., Roberts, R. G., Sugino, S., van Ommen, G. J., den Dunnen, J. T., Hum. Mol. Genet. 1993, 2, 1719-1721.
11. Nataraj, A. J., Olivos-Glander, I., Kusukawa, N., Highsmith, W. E., Electrophoresis 1999, 20, 1177-1185.
12. Ganguly, A., Rock, M. J., Prockop, D. J., Proc. Natl. Acad. Sci. USA 1993, 90, 10325-10329.
13. Couch, F. J., Farid, L. M., DeShano, M. L., Tavtigian, S. V., Nat. Genet. 1996, 13, 123-125.
14. Blesa, J. R., Garcia, J. A., Ochoa, E., Hum. Mutat. 2000, 15, 381-382.
15. Blesa, J. R., Hernandez-Yago, J., BioTechniques 2000, 28, 1019-1025.
16. Edwards, S. M., Kote-Jarai, Z., Hamoudi, R., Eeles, R. A., Hum. Mutat. 2001, 17, 220-232.
17. Crepin, M., Escande, F., Pigny, P., Buisine, M. P., Electrophoresis 2003, 24, 26-33.
18. Rozycka, M., Collins, N., Stratton, M. R., Wooster, R., Genomics 2000, 70, 34-40.
19. Kozlowski, P., Krzyzosiak, W. J., Nucleic Acids Res. 2001, 29, e71.
20. Kozlowski, P., Krzyzosiak, W. J., Electrophoresis 2004, 25, 990-998.
21. Esteban-Cardenosa, E., Duran, M., Infante, M., Velasco, E., Miner, C., Clin. Chem. 2004, 50, 313-320.
22. Lynch, H. T., de la Chapelle, A., J. Med. Genet. 1999, 36, 801-818.
23. Vasen, H. F A., Wijnen, J., Cytogenet. Cell Genet. 1999, 86, 136-139.
24. Diez, O., Osorio, A., Duran, M., Martinez-Ferrandis, J. I., Hum. Mutat. 2003, 22, 301-312.
25. Doi, K., Doi, H., Noiri, E., Nakao, A., Electrophoresis 2004, 25, 833-838.
26. Kozlowski, P., Krzyzosiak, W. J., Electrophoresis 2005, 26, 71-81.
27. Sevilla, C., Moatti, J. P., Julian-Reynier, C., Eisinger, F., Eur. J. Hum. Genet. 2002, 10, 599-606.
28. Shen, M. H., Harper, P. S., Upadhyaya, M., J. Med. Genet. 1996, 33, 2-17.
29. den Dunnen, J. T., Antonarakis, S. E., Hum. Mutat. 2000, 15, 7-12.
30. den Dunnen, J. T., Paalman, M. H., Hum. Mutat. 2003, 22, 181-182.