Single-strand conformation polymorphism analysis by capillary and microchip electrophoresis: A fast, simple method for detection of common mutations in BRCA1 and BRCA2

Genomics

Volumn 63, Issue 1, 2000, Pages 25-34

  Tian, Huijun ^a   Jaquins Gerstl, Andrea ^a,b   Munro, Nicole ^a   Trucco, Massimo ^b   Brody, Lawrence C ^c   Landers, James P ^d,e  

^a UNIVERSITY OF PITTSBURGH   (United States)

^b CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

^c NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^d UNIVERSITY OF VIRGINIA   (United States)

^e UNIVERSITY OF VIRGINIA HEALTH SYSTEM   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ARTICLE; BREAST CANCER; BREAST CARCINOGENESIS; CANCER RISK; CANCER SUSCEPTIBILITY; CAPILLARY ELECTROPHORESIS; DNA POLYMORPHISM; GENE AMPLIFICATION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; JEW; PRIORITY JOURNAL; RISK ASSESSMENT;

EID: 0034002175     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1999.6067     Document Type: Article

References (49)

1. Arnold N., Gross E., Schwarz-Boeger U., Pfisterer J., Jonat W., Kiechle M. A highly sensitive, fast, and economical technique for mutation analysis in hereditary breast and ovarian cancers. Hum. Mutat. 14:1999;333-339.
2. Atha D. H., Wenz H. M., Morehead H., Tian J., O'Connell C. D. Detection of p53 point mutations by single strand conformation polymorphism: Analysis by capillary electrophoresis. Electrophoresis. 19:1998;172-179.
3. Blackwood M. A., Weber B. L. BRCA1 and BRCA2: From molecular genetics to clinical medicine. J. Clin. Oncol. 16:1998;1969-1977.
4. Breast Cancer Information Core Web site, http://www.nhgri.nih.gov/Intramural_research/Lab_transfer/Bic/ .
5. Brody L. C., Biesecker B. B. Breast cancer susceptibility genes. BRCA1 and BRCA2. Medicine. 77:1998;208-226.
6. Castilla L. H., Couch F. J., Erdos M. R., Hoskins K. F., Calzone K., Garber J. E., Boyd J., Lubin M. B., Deshano M. L., Brody L. C. Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer. Nat. Genet. 8:1994;387-391.
7. Fan S., Wang J. A., Yuan R. Q., Ma Y. X., Meng Q., Erdos M. R., Brody L. C., Goldberg I. D., Rosen E. M. BRCA1 as a potential human prostate tumor suppressor: Modulation of proliferation, damage responses and expression of cell regulatory proteins. Oncogene. 16:1998;3069-3082.
8. Friedman E., Bruchim R. B., Kruglikova A., Risel S., Levy-Lahad E., Halle D., Bar-On E., Gershoni-Baruch R., Dagan E., Kepten I., Peretz T., Lerer I., Wienberg N., Shushan A., Abeliovich D. Double heterozygotes for the Ashkenazi founder mutations in BRCA1 and BRCA2 genes. Am. J. Hum. Genet. 63:1998;1224-1227.
9. Gayther S. A., Harrington P., Russell P., Kharkevich G., Garkavtseva R. F., Ponder B. A. Rapid detection of regionally clustered germ-line BRCA1 mutations by multiplex heteroduplex analysis. Am. J. Hum. Genet. 58:1996;451-456.
10. Gross E., Arnold N., Goette J., Schwarz-Boeger U., Kiechle M. A comparison of BRCA1 mutation analysis by direct sequencing, SSCP and DHPLC. Hum. Genet. 105:1999;72-78.
11. Hacia J. G., Brody L. C., Chee M. S., Fodor S. P., Collins F. S. Detection of heterozygous mutations in BRCA1 using high density oligonucleotide arrays and two-colour fluorescence analysis. Nat. Genet. 14:1996;441-447.
12. Hartge P., Struewing J. P., Wacholder S., Brody L. C., Tucker M. A. The prevalence of common BRCA1 and BRCA2 mutations among Ashkenazi Jews. Am. J. Hum. Genet. 64:1999;963-970.
13. Hayashi K., Kukita Y., Inazuka M., Tahira T. Single-strand conformation polymorphism. Cotton R. G.H., Edkins E., Forrest S. Mutation Detection: A Practical Approach. 1998;7-23 Oxford Univ. Press, New York.
14. Hofgärtner W. T., Hühmer A. F. R., Landers J. P., Kant J. A. Rapid diagnosis of herpes simplex encephalitis using microchip electrophoresis of PCR products. Clin. Chem. 45:1999;2120-2128.
15. Huang Z., Munro N. J., Landers J. P. Acousto-optic-based scanning of capillary and chip arrays for multichannel fluorescence detection of DNA. Anal. Chem. 71:1999;5309-5314.
16. Humphries S. E., Gudnason V., Whittall R. E., Day I. N. High throughput modification of single-strand conformation polymorphism analysis. Elles R. Molecular Diagnosis of Genetic Diseases. 1996;321-340 Humana Press, Totowa.
17. Inazuka M., Wenz H. M., Sakabe M., Tahira T., Hayashi K. A streamlined mutation detection system: Multicolor post-PCR fluorescence labeling and single-strand conformational polymorphism analysis by capillary electrophoresis. Genome Res. 7:1997;1094-1103.
18. Iwahana H., Adzuma K., Takahashi Y., Katashima R., Yoshimoto K., Itakura M. Multiple fluorescence-based PCR-SSCP analysis with postlabeling. PCR Methods Appl. 4:1995;275-282.
19. Iwahana H., Fujimura M., Takahashi Y., Iwabuchi T., Yoshimoto K., Itakura M. Multiple fluorescence-based PCR-SSCP analysis using internal fluorescent labeling of PCR products. BioTechniques. 21:1996;510-514.
20. Iwahana H., Yoshimoto K., Mizusawa N., Kudo E., Itakura M. Multiple fluorescence-based PCR-SSCP analysis. BioTechniques. 16:1994;296-305.
21. Janezic S. A., Ziogas A., Krumroy L. M., Krasner M., Plummer S. J., Cohen P., Gildea M., Barker D., Haile R., Casey G., Anton-Culver H. Germline BRCA1 alterations in a population-based series of ovarian cancer cases. Hum. Mol. Genet. 8:1999;889-897.
22. Jorgenson J. W., Lukacs K. D. Capillary zone electrophoresis. Science. 222:1983;266-272.
23. Katsuragi K., Kitagishi K., Chiba W., Ikeda S., Kinoshita M. Fluorescence-based polymerase chain reaction-single-strand conformation polymorphism analysis of p53 gene by capillary electrophoresis. J. Chromatogr. A. 744:1996;311-320.
24. Katsuragi K., Kitagishi K., Mizuguchi T., Nagashima T., Kinoshita M., Kumada H. Method for detection of epsilon-secondary structure in the precore region of human hepatitis B virus DNA using a fluorescence-based polymerase chain reaction-single-strand-conformation polymorphism technique with capillary electrophoresis. J. Chromatogr. A. 781:1997;307-314.
25. Kuypers A. W., Linssen P. C., Willems P. M., Mensink E. J. On-line melting of double-stranded DNA for analysis of single-stranded DNA using capillary electrophoresis. J. Chromatogr. B Biomed. Appl. 675:1996;205-211.
26. Larsen L. A., Christiansen M., Vuust J., Andersen P. S. High-throughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: Robust multiplex analysis and pattern-based identification of allelic variants. Hum. Mutat. 13:1999;318-327.
27. Mansukhani M. M., Nastiuk K. L., Hibshoosh H., Kularatne P., Russo D., Krolewski J. J. Convenient, nonradioactive, heteroduplex-based methods for identifying recurrent mutations in the BRCA1 and BRCA2 genes. Diagn. Mol. Pathol. 6:1997;229-237.
28. Markoff A., Savov A., Vladimirov V., Bogdanova N., Kremensky I., Ganev V. Optimization of single-strand conformation polymorphism analysis in the presence of polyethylene glycol. Clin. Chem. 43:1997;30-33.
29. Markoff A., Sormbroen H., Bogdanova N., Preisler-Adams S., Ganev V., Dworniczak B., Horst J. 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. Eur. J. Hum. Genet. 6:1998;145-150.
30. Miki Y., Swensen J., Shattuck-Eidens D., Futreal P. A., Harshman K., Tavtigian S., Liu Q., Cochran C., Bennett L. M., Ding W. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science. 266:1994;66-71.
31. Mikkers F., Everaerts F., Verheggen T. High-performance zone electrophoresis. J. Chromatogr. 169:1979;11-20.
32. Munro N. J., Snow K., Kant J. A., Landers J. P. Molecular diagnostics on microfabricated electrophoretic devices: From slab gel to capillary to microchip-based assays for T- and B-cell lymphoproliferative disorders. Clin. Chem. 45:1999;1906-1917.
33. Nataraj A. J., Olivos-Glander I., Kusukawa N., Highsmith W. E. Jr. Single-strand conformation polymorphism and heteroduplex analysis for gel-based mutation detection. Electrophoresis. 20:1999;1177-1185.
34. Neuhausen S., Gilewski T., Norton L., Tran T., McGuire P., Swensen J., Hampel H., Borgen P., Brown K., Skolnick M., Shattuck-Eidens D., Jhanwar S., Goldgar D., Offit K. Recurrent BRCA2 6174delT mutations in Ashkenazi Jewish women affected by breast cancer. Nat. Genet. 13:1996;126-128.
35. Oddoux C., Struewing J. P., Clayton C. M., Neuhausen S., Brody L. C., Kaback M., Haas B., Norton L., Borgen P., Jhanwar S., Goldgar D., Ostrer H., Offit K. The carrier frequency of the BRCA2 6174delT mutation among Ashkenazi Jewish individuals is approximately 1%. Nat. Genet. 14:1996;188-190.
36. Ozcelik H., Antebi Y. J., Cole D. E. C., Andrulis I. L. Heteroduplex and protein truncation analysis of the BRCA1 185delAG mutation. Hum. Genet. 98:1996;310-312.
37. Palmer, J. P, and, Landers, J. P. 1999, DNA diagnostics. Submitted for publication. [a review].
38. Ramseier A., von Heeren F., Thormann W. Analysis of fluorescein isothiocyanate derivatized amphetamine and analogs in human urine by capillary electrophoresis in chip-based and fused-silica capillary instrumentation. Electrophoresis. 19:1998;2967-2975.
39. Ren J., Ueland P. M. Temperature and pH effects on single-strand conformation polymorphism analysis by capillary electrophoresis. Hum. Mutat. 13:1999;458-463.
40. Ren J., Ulvik A., Ueland P. M., Refsum H. Analysis of single-strand conformation polymorphism by capillary electrophoresis with laser-induced fluorescence detection using short-chain polyacrylamide as sieving medium. Anal. Biochem. 245:1997;79-84.
41. Singer V. L., Jones L. J., Yue S. T., Haugland R. P. Characterization of PicoGreen reagent and development of a fluorescence-based solution assay for double-stranded DNA quantitation. Anal. Biochem. 249:1997;228-238.
42. Struewing J. P., Brody L. C., Erdos M. R., Kase R. G., Giambarresi T. R., Smith S. A., Collins F. S., Tucker M. A. Detection of eight BRCA1 mutations in 10 breast/ovarian cancer families, including 1 family with male breast cancer. Am. J. Hum. Genet. 57:1995;1-7.
43. Struewing J. P., Hartge P., Wacholder S., Baker S. M., Berlin M., McAdams M., Timmerman M. M., Brody L.C., Tucker M. A. The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N. Engl. J. Med. 336:1997;1401-1408.
44. Tian, H, Hühmer, A. F. R, and, Landers, J. P. Evaluation of silica-based particles for microminiaturization of DNA purification. In preparation.
45. Tong D., Stimpfl M., Reinthaller A., Vavra N., Mullauer-Ertl S., Leodolter S., Zeillinger R. BRCA1 gene mutations in sporadic ovarian carcinomas: Detection by PCR and reverse allele-specific oligonucleotide hybridization. Clin. Chem. 45:1999;976-981.
46. Tonin P., Weber B., Offit K., Couch F., Rebbeck T. R., Neuhausen S., Godwin A. K., Daly M., Wagner-Costalos J., Berman D., Grana G., Fox E., Kane M. F., Kolodner R. D., Krainer M., Haber D. A., Struewing J. P., Warner E., Rosen B., Lerman C., Peshkin B., Norton L., Serova O., Foulkes W. D., Garber J. E. Frequency of recurrent BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer families. Nat. Med. 2:1996;1179-1183.
47. von Heeren F., Verpoorte E., Manz A., Thormann W. Micellar electrokinetic chromatography separations and analyses of biological samples on a cyclic planar microstructure. Anal. Chem. 68:1996;2044-2053.
48. Wenz H. M., Baumhueter S., Ramachandra S., Worwood M. A rapid automated SSCP multiplex capillary electrophoresis protocol that detects the two common mutations implicated in hereditary hemochromatosis (HH). Hum. Genet. 104:1999;29-35.
49. Wooster R., Bignell G., Lancaster J., Swift S., Seal S., Mangion J., Collins N., Gregory S., Gumbs C., Micklem G. Identification of the breast cancer susceptibility gene BRCA2. Nature. 378:1995;789-792.