Haplotype analysis of BRCA1 gene reveals a new gene rearrangement: characterization of a 19.9 KBP deletion.

摘要: Germ-line mutations in the BRCA1 gene cause hereditary predisposition to breast and ovarian cancer. BRCA2 account for about 40% of high-risk families. Mutation-screening methods generally focus on genomic DNA are usually PCR based; they enable detection sequence alterations such as point small deletions insertions. However, do not allow partial or entire exon(s) loss, because presence homologous allele results a positive signal, giving rise false-negative result. Identification unusual haplotypes patient samples by an expectation maximisation algorithm has recently been suggested method identifying hemizygous regions caused large intragenic deletions. Using similar approach, we identified novel rearrangement breast/ovarian cancer family negative at first mutation screening; detected deletion encompassing exons 14–19, probably due replication slippage between Alu sequences.