Haplotype block: a new type of forensic DNA markers

摘要: Forensic DNA analysis is currently performed using highly discriminating short tandem repeat (STR) markers. SNPs are being investigated as adjunct tools for human identity testing because of their abundance in the genome, utility genotyping degraded samples, and amenability to automation. While can provide an alternative approach, on a per locus basis they have lower power discrimination (PD) than STRs. With discovery block structures novel set SNP markers available further exploration forensic utility. Several neighboring, tightly linked inherited together form haplotype block, which haploblock has higher individual within block. Candidate blocks were selected from three major populations (Caucasian, East Asian, African) following parameters: maximum match probability reduction = 0.85, linkage disequilibrium (LD) r2 ≥ 0.7, Fst 0.06, minimum number 3, heterozygosity 0.2, haplotypes 3. From HapMap Phase II data, 253 haploblocks identified 22 autosomal chromosomes. After removing deviating Hardy–Weinberg equilibrium (HWE) or LD with other haploblocks, 24 remained candidates consideration. The cumulative PD these reach 10−12 studied. data support between independence even when syntenic. We propose guidelines evidence interpretation that address application transfer evidence, mixture, kinship analyses.