Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia

摘要

Multiple-sequence alignment of the mutation haplotype using genome-wide SNP. Data revealed a core haplotype (chr17: 41223094-41487451). The conserved region has a starting marker of Affx-13890652, and ending marker of rs75854888, creating boundaries of a 264.4-kb conserved window (dotted black box) around the mutation (location indicated by solid black line)