14 Kilobase deletion in the promoter region of BRCA1 in a breast cancer family
AssigneeUniversity of Utah Research Foundation
InventorJeff Swensen
Life of this patent
Estimating the term…
Abstract
A 14 kb deletion in the promoter region of a BRCA1 gene has been found in a kindred which had earlier been linked to BRCA1. This deletion is apparently the result of unequal crossing over between two Alu repeats, one of which is 5' upstream of the start of the coding region and the second which is within intron 2. The deletion results in exons 1a, 1b and 2 being deleted from the gene with the result that the gene cannot be transcribed.
Claims5
An isolated BRCA1 gene comprising a deletion between two Alu repeat sequences as a result of unequal crossing over between said Alu repeat sequences.
A BRCA1 gene which has a deletion comprising exon 1a, exon 1b and exon 2.
Dependencies are inferred from the claim text.