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American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1994 Mar;54(3):516–525.

Genetic Mapping of the BRCA1 Region on Chromosome 17q21

Hans Albertsen, Rosemarie Plaetke, Linda Ballard, Esther Fujimoto, Judith Connolly, Elizabeth Lawrence, Pilar Rodriguez, Margaret Robertson, Paige Bradley, Bruce Milner, David Fuhrman, Andy Marks, Robert Sargent, Peter Cartwright, Nori Matsunami, Ray White
PMCID: PMC1918118  PMID: 8116621

Abstract

Chromosome 17q21 harbors a gene (BRCA1) associated with a hereditary form of breast cancer. As a step toward identification of this gene itself we developed a number of simple-sequence-repeat (SSR) markers for chromosome 17 and constructed a high-resolution genetic map of a 40-cM region around 17q21. As part of this effort we captured genotypes from five of the markers by using an ABI sequencing instrument and stored them in a locally developed database, as a step toward automated genotyping. In addition, YACs that physically link some of the SSR markers were identified. The results provided by this study should facilitate physical mapping of the BRCA1 region and isolation of the BRCA1 gene.

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Selected References

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  1. Albertsen H. M., Abderrahim H., Cann H. M., Dausset J., Le Paslier D., Cohen D. Construction and characterization of a yeast artificial chromosome library containing seven haploid human genome equivalents. Proc Natl Acad Sci U S A. 1990 Jun;87(11):4256–4260. doi: 10.1073/pnas.87.11.4256. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Black D. M., Nicolai H., Borrow J., Solomon E. A somatic cell hybrid map of the long arm of human chromosome 17, containing the familial breast cancer locus (BRCA1). Am J Hum Genet. 1993 Apr;52(4):702–710. [PMC free article] [PubMed] [Google Scholar]
  3. Bowcock A. M., Anderson L. A., Friedman L. S., Black D. M., Osborne-Lawrence S., Rowell S. E., Hall J. M., Solomon E., King M. C. THRA1 and D17S183 flank an interval of < 4 cM for the breast-ovarian cancer gene (BRCA1) on chromosome 17q21. Am J Hum Genet. 1993 Apr;52(4):718–722. [PMC free article] [PubMed] [Google Scholar]
  4. Clark J. M. Novel non-templated nucleotide addition reactions catalyzed by procaryotic and eucaryotic DNA polymerases. Nucleic Acids Res. 1988 Oct 25;16(20):9677–9686. doi: 10.1093/nar/16.20.9677. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Cropp C. S., Lidereau R., Campbell G., Champene M. H., Callahan R. Loss of heterozygosity on chromosomes 17 and 18 in breast carcinoma: two additional regions identified. Proc Natl Acad Sci U S A. 1990 Oct;87(19):7737–7741. doi: 10.1073/pnas.87.19.7737. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Devilee P., Cornelis R. S., Bootsma A., Bardoel A., van Vliet M., van Leeuwen I., Cleton F. J., de Klein A., Lindhout D., Vasen H. F. Linkage to markers for the chromosome region 17q12-q21 in 13 Dutch breast cancer kindreds. Am J Hum Genet. 1993 Apr;52(4):730–735. [PMC free article] [PubMed] [Google Scholar]
  7. Easton D. F., Bishop D. T., Ford D., Crockford G. P. Genetic linkage analysis in familial breast and ovarian cancer: results from 214 families. The Breast Cancer Linkage Consortium. Am J Hum Genet. 1993 Apr;52(4):678–701. [PMC free article] [PubMed] [Google Scholar]
  8. Economou E. P., Bergen A. W., Warren A. C., Antonarakis S. E. The polydeoxyadenylate tract of Alu repetitive elements is polymorphic in the human genome. Proc Natl Acad Sci U S A. 1990 Apr;87(8):2951–2954. doi: 10.1073/pnas.87.8.2951. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Green E. D., Olson M. V. Systematic screening of yeast artificial-chromosome libraries by use of the polymerase chain reaction. Proc Natl Acad Sci U S A. 1990 Feb;87(3):1213–1217. doi: 10.1073/pnas.87.3.1213. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Hall J. M., Lee M. K., Newman B., Morrow J. E., Anderson L. A., Huey B., King M. C. Linkage of early-onset familial breast cancer to chromosome 17q21. Science. 1990 Dec 21;250(4988):1684–1689. doi: 10.1126/science.2270482. [DOI] [PubMed] [Google Scholar]
  11. Joslyn G., Carlson M., Thliveris A., Albertsen H., Gelbert L., Samowitz W., Groden J., Stevens J., Spirio L., Robertson M. Identification of deletion mutations and three new genes at the familial polyposis locus. Cell. 1991 Aug 9;66(3):601–613. doi: 10.1016/0092-8674(81)90022-2. [DOI] [PubMed] [Google Scholar]
  12. Lathrop G. M., Lalouel J. M., Julier C., Ott J. Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci U S A. 1984 Jun;81(11):3443–3446. doi: 10.1073/pnas.81.11.3443. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Lemons R. S., Eilender D., Waldmann R. A., Rebentisch M., Frej A. K., Ledbetter D. H., Willman C., McConnell T., O'Connell P. Cloning and characterization of the t(15;17) translocation breakpoint region in acute promyelocytic leukemia. Genes Chromosomes Cancer. 1990 Jul;2(2):79–87. doi: 10.1002/gcc.2870020202. [DOI] [PubMed] [Google Scholar]
  14. Litt M., Luty J. A. A hypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle actin gene. Am J Hum Genet. 1989 Mar;44(3):397–401. [PMC free article] [PubMed] [Google Scholar]
  15. Melis R., Bradley P., Elsner T., Robertson M., Lawrence E., Gerken S., Albertsen H., White R. Polymorphic SSR (simple-sequence-repeat) markers for chromosome 20. Genomics. 1993 Apr;16(1):56–62. doi: 10.1006/geno.1993.1140. [DOI] [PubMed] [Google Scholar]
  16. Nakamura Y., Lathrop M., O'Connell P., Leppert M., Barker D., Wright E., Skolnick M., Kondoleon S., Litt M., Lalouel J. M. A mapped set of DNA markers for human chromosome 17. Genomics. 1988 May;2(4):302–309. doi: 10.1016/0888-7543(88)90018-3. [DOI] [PubMed] [Google Scholar]
  17. O'Connell P., Albertsen H., Matsunami N., Taylor T., Hundley J. E., Johnson-Pais T. L., Reus B., Lawrence E., Ballard L., White R. A radiation hybrid map of the BRCA1 region. Am J Hum Genet. 1994 Mar;54(3):526–534. [PMC free article] [PubMed] [Google Scholar]
  18. O'Connell P., Plaetke R., Matsunami N., Odelberg S., Jorde L., Chance P., Leppert M., Lalouel J. M., White R. An extended genetic linkage map and an "index" map for human chromosome 17. Genomics. 1993 Jan;15(1):38–47. doi: 10.1006/geno.1993.1007. [DOI] [PubMed] [Google Scholar]
  19. Orita M., Suzuki Y., Sekiya T., Hayashi K. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics. 1989 Nov;5(4):874–879. doi: 10.1016/0888-7543(89)90129-8. [DOI] [PubMed] [Google Scholar]
  20. Saiki R. K., Gelfand D. H., Stoffel S., Scharf S. J., Higuchi R., Horn G. T., Mullis K. B., Erlich H. A. Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science. 1988 Jan 29;239(4839):487–491. doi: 10.1126/science.2448875. [DOI] [PubMed] [Google Scholar]
  21. Sheer D., Sheppard D. M., le Beau M., Rowley J. D., San Roman C., Solomon E. Localization of the oncogene c-erbA1 immediately proximal to the acute promyelocytic leukaemia breakpoint on chromosome 17. Ann Hum Genet. 1985 Jul;49(Pt 3):167–171. doi: 10.1111/j.1469-1809.1985.tb01690.x. [DOI] [PubMed] [Google Scholar]
  22. Simard J., Feunteun J., Lenoir G., Tonin P., Normand T., Luu The V., Vivier A., Lasko D., Morgan K., Rouleau G. A. Genetic mapping of the breast-ovarian cancer syndrome to a small interval on chromosome 17q12-21: exclusion of candidate genes EDH17B2 and RARA. Hum Mol Genet. 1993 Aug;2(8):1193–1199. doi: 10.1093/hmg/2.8.1193. [DOI] [PubMed] [Google Scholar]
  23. Smith S. A., Easton D. F., Ford D., Peto J., Anderson K., Averill D., Stratton M., Ponder M., Pye C., Ponder B. A. Genetic heterogeneity and localization of a familial breast-ovarian cancer gene on chromosome 17q12-q21. Am J Hum Genet. 1993 Apr;52(4):767–776. [PMC free article] [PubMed] [Google Scholar]
  24. Tautz D. Hypervariability of simple sequences as a general source for polymorphic DNA markers. Nucleic Acids Res. 1989 Aug 25;17(16):6463–6471. doi: 10.1093/nar/17.16.6463. [DOI] [PMC free article] [PubMed] [Google Scholar]
  25. Varesco L., Caligo M. A., Simi P., Black D. M., Nardini V., Casarino L., Rocchi M., Ferrara G., Solomon E., Bevilacqua G. The NM23 gene maps to human chromosome band 17q22 and shows a restriction fragment length polymorphism with BglII. Genes Chromosomes Cancer. 1992 Jan;4(1):84–88. doi: 10.1002/gcc.2870040113. [DOI] [PubMed] [Google Scholar]
  26. Weber J. L., May P. E. Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am J Hum Genet. 1989 Mar;44(3):388–396. [PMC free article] [PubMed] [Google Scholar]
  27. Weissenbach J., Gyapay G., Dib C., Vignal A., Morissette J., Millasseau P., Vaysseix G., Lathrop M. A second-generation linkage map of the human genome. Nature. 1992 Oct 29;359(6398):794–801. doi: 10.1038/359794a0. [DOI] [PubMed] [Google Scholar]
  28. Ziegle J. S., Su Y., Corcoran K. P., Nie L., Mayrand P. E., Hoff L. B., McBride L. J., Kronick M. N., Diehl S. R. Application of automated DNA sizing technology for genotyping microsatellite loci. Genomics. 1992 Dec;14(4):1026–1031. doi: 10.1016/s0888-7543(05)80126-0. [DOI] [PubMed] [Google Scholar]

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