METHODS FOR THE DETECTION OF SEQUENCE AMPLIFICATION IN THE BRCA1 LOCUS

摘要

Methods for detecting the amplifications of sequences in the BRCA1 locus, which sequences have ends consisting of or are framed with sequence stretches present at least twice in the BRCA1 locus, and which amplification results in at least two or at least three, especially three, tandem copies of the amplified sequence; methods for determining a predisposition to diseases or disorders associated with these amplifications, including predisposition to ovarian cancer or breast cancer and methods for detecting amplifications with similar features in other loci.

主权项

1. A method for in vitro detection of a large rearrangement in the BRCA1 gene contained in nucleic acid of a biological sample comprising nucleic acid representative of chromosomal nucleic acid of human chromosome 17,
said method comprising detecting at least three successive copies of a target sequence which is a sequence having a size in a range of 6 kb to 8 kb and extending from intron 2 of the BRCA1 gene to the 5′ end of the NBR2 gene in the human 17 chromosome.