14 Kilobase deletion in the promoter region of BRCA1 in a breast cancer family
作者： Jeff Swensen
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摘要: A 14 kb deletion in the promoter region of a BRCA1 gene has been found kindred which had earlier linked to BRCA1. This is apparently result unequal crossing over between two Alu repeats, one 5' upstream start coding and second within intron 2. The results exons 1a, 1b 2 being deleted from with that cannot be transcribed.
google.com.mx 参考文章(10)
L S Huang, M E Ripps, S H Korman, R J Deckelbaum, J L Breslow, Hypobetalipoproteinemia due to an apolipoprotein B gene exon 21 deletion derived by Alu-Alu recombination. Journal of Biological Chemistry. ,vol. 264, pp. 11394- 11400 ,(1989) , 10.1016/S0021-9258(18)60477-6
JA Chambers, H Nicolai, E Solomon, CF Xu, MA Brown, B Griffiths, D Black, The 5' end of the BRCA1 gene lies within a duplicated region of human chromosome 17q21 Oncogene. ,vol. 12, pp. 2507- 2513 ,(1996)
Steven A. Narod, Gilbert M. Lenoir, Jean Feunteun, Patricia Tonin, Bakary Sylla, Henry T. Lynch, Delphine Torchard, Marco Montagna, Olga Serova, A high incidence of BRCA1 mutations in 20 breast-ovarian cancer families. American Journal of Human Genetics. ,vol. 58, pp. 42- 51 ,(1996)
CI Szabo, MC King, Inherited breast and ovarian cancer Human Molecular Genetics. ,vol. 4, pp. 1811- 1817 ,(1995) , 10.1093/HMG/4.SUPPL_1.1811
Gilbert M. Lenoir, Gilbert M. Lenoir, Jean Feunteun, Sylvie Mazoyer, Sylvie Mazoyer, Olga M. Serova-Sinilnikova, Olga M. Serova-Sinilnikova, Henry T. Lynch, Nadine Puget, Nadine Puget, Delphine Torchard, A 1-kb Alu-mediated germ-line deletion removing BRCA1 exon 17. Cancer Research. ,vol. 57, pp. 828- 831 ,(1997)
K Neote, B McInnes, D J Mahuran, R A Gravel, Structure and distribution of an Alu-type deletion mutation in Sandhoff disease. Journal of Clinical Investigation. ,vol. 86, pp. 1524- 1531 ,(1990) , 10.1172/JCI114871
Tadashi Ariga, Philip E. Carter, Alvin E. Davis, Recombinations between Alu repeat sequences that result in partial deletions within the C1 inhibitor gene. Genomics. ,vol. 8, pp. 607- 613 ,(1990) , 10.1016/0888-7543(90)90246-Q
T M Smith, M K Lee, C I Szabo, N Jerome, M McEuen, M Taylor, L Hood, M C King, Complete genomic sequence and analysis of 117 kb of human DNA containing the gene BRCA1. Genome Research. ,vol. 6, pp. 1029- 1049 ,(1996) , 10.1101/GR.6.11.1029
Yoshio Miki, Jeff Swensen, Donna Shattuck-Eidens, P Andrew Futreal, Keith Harshman, Sean Tavtigian, Qingyun Liu, Charles Cochran, L Michelle Bennett, Wei Ding, Russell Bell, Judith Rosenthal, Charles Hussey, Thanh Tran, Melody McClure, Cheryl Frye, Tom Hattier, Robert Phelps, Astrid Haugen-Strano, Harold Katcher, Kazuko Yakumo, Zahra Gholami, Daniel Shaffer, Steven Stone, Steven Bayer, Christian Wray, Robert Bogden, Priya Dayananth, John Ward, Patricia Tonin, Steven Narod, Pam K Bristow, Frank H Norris, Leah Helvering, Paul Morrison, Paul Rosteck, Mei Lai, J Carl Barrett, Cathryn Lewis, Susan Neuhausen, Lisa Cannon-Albright, David Goldgar, Roger Wiseman, Alexander Kamb, Mark H Skolnick, A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1 Science. ,vol. 266, pp. 66- 71 ,(1994) , 10.1126/SCIENCE.7545954
Chun-Fang Xu, Melissa A. Brown, Julie A. Chambers, Beatrice Griffiths, Hans Nicolai, Ellen Solomon, Distinct transcription start sites generate two forms of BRCA1 mRNA Human Molecular Genetics. ,vol. 4, pp. 2259- 2264 ,(1995) , 10.1093/HMG/4.12.2259