Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method

摘要: We applied a novel method to detect single or multiple exon deletions and amplifications in the BRCA1 gene. The test, called multiplex ligation-dependent probe amplification (MLPA), uses probes designed hybridize adjacently target sequence. After ligation, joined are amplified quantified. Our two diagnostic laboratories have tested recent years 805 families by conventional PCR-based techniques, found 116 28 BRCA2 mutation-positive families. Using MLPA, we remaining 661 noninformative breast cancer identified five distinct germ-line mutations families: deletion of 8, exons 20-22, duplication 13 21-23, respectively, triplication, encompassing 17-19. Genomic constitute substantial fraction Dutch If MLPA had been included our initial testing, 33 with would identified, representing 27% total 121 test for ensures sensitive comprehensive high-throughput screening genomic rearrangement can easily be implemented molecular analysis BRCA1.