Defining microsatellite alleles by genotyping global indigenous human populations and non-human primates

Polymorphisms at variable number of tandem repeat (VNTR) loci have been used in forensic science for almost decade. Microsatellite loci, especially tri-, tetra-, and pentanucleotide repeat loci, have shown great potential in personal identification and paternity testing. In this report, we describe results of genotyping three tetranucleotide repeat loci (D5S818, D7S820, D13S317) in 16 worldwide indigenous human populations and one chimpanzee population which were being developed for forensic applications. We demonstrate the utility of typing globally diverse populations in defining microsatellite alleles: Specifically (i) investigating the measurement errors of each allele using semi-automatic genotyping instrumentation and software, (ii) assessing the range of alleles, (iii) understanding the extent of allele frequency differences across worldwide populations, and (iv) identifying possible anomalous alleles with complex structures.