Fig. 4: Polymorphic Alu insertions in Asian populations.

The PCR results for two Alu insertions, a AluYa5_78 and b AluYb8_17, are shown. A screenshot of the UCSC human genome browser (hg19) shows the polymorphic AluYb8 insertion at intron 23 of the CASK gene; adjacent repeats are displayed in gray boxes. PCR amplification was conducted from 80 DNA samples representing four different populations (South American, European, African American, and Asian) and 38 Korean DNA samples (Supplementary Table S5). The upper bands (marked with asterisks) indicate the presence of an Alu insertion, and the lower bands indicate its absence at the corresponding genomic locus.