A Multi-Exonic BRCA1 Deletion Identified in Multiple Families through Single Nucleotide Polymorphism Haplotype Pair Analysis and Gene Amplification with.

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A Multi-Exonic BRCA1 Deletion Identified in Multiple Families through Single Nucleotide Polymorphism Haplotype Pair Analysis and Gene Amplification with Widely Dispersed Primer Sets Benjamin D. Ward, Brant C. Hendrickson, Thaddeus Judkins, Amie M. Deffenbaugh, Benoît Leclair, Brian E. Ward, Thomas Scholl The Journal of Molecular Diagnostics Volume 7, Issue 1, Pages 139-142 (February 2005) DOI: 10.1016/S1525-1578(10)60020-7 Copyright © 2005 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 1 Detection of a large deletion mutation in patients by PCR. A fragment of ∼5 kb in length was produced in two (lanes 4 and 5) of six patients (lanes 1 through 6) with an unusual BRCA1 haplotype. PCR primers for these reactions annealed upstream from exon 13 (forward) and downstream from exon 21 (reverse). Lane 7 contains the PCR reaction from a control specimen with no family history of cancer. The lanes containing PCR product (lanes 1 to 7) are flanked on both sides by a HindIII digest of λ DNA as a size marker (left-hand column indicates marker fragment lengths in kb). The Journal of Molecular Diagnostics 2005 7, 139-142DOI: (10.1016/S1525-1578(10)60020-7) Copyright © 2005 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 2 Schematic diagram of relevant regions of the BRCA1 locus. BRCA1 structure is depicted to scale as a horizontal black line (introns) with numbered gray boxes (exons 13 through 24). Distance is marked every 10 kb by vertical lines and the numbering conforms to GenBank accession no. L78833. Vertical arrows indicate the locations for 2 of the 14 polymorphisms used to define haplotypes that are assayed during clinical testing in exons 13 and 16 along with their base positions and the base change (consensus -> polymorphism). The dashed line depicts the region of BRCA1 encompassed by this deletion. The Journal of Molecular Diagnostics 2005 7, 139-142DOI: (10.1016/S1525-1578(10)60020-7) Copyright © 2005 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 3 The sequence of the deletion breakpoint. Eighty bases centered about the breakpoint in the patient are flanked vertically by the wild-type sequences (numeric designations and sequence from GenBank accession no. L78833). Horizontal lines denote the region of identity (54 bases) between the sequences that have recombined. The Journal of Molecular Diagnostics 2005 7, 139-142DOI: (10.1016/S1525-1578(10)60020-7) Copyright © 2005 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions