DEFINING MICROSATELLITE ALLELES BY GENOTYPING GLOBAL INDIGENOUS HUMAN-POPULATIONS AND NONHUMAN-PRIMATES

Polymorphisms at variable number of tandem repeat (VNTR) loci have bee n used in forensic science for almost decade. Microsatellite loci, esp ecially tri-, tetra-, and pentanucleotide repeat loci, have shown grea t 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 popul ations and one chimpanzee population which were being developed for fo rensic applications. We demonstrate the utility of typing globally div erse populations in defining microsatellite alleles: Specifically (i) investigating the measurement errors of each allele using semi-automat ic genotyping instrumentation and software, (ii) assessing the range o f alleles, (iii) understanding the extent of allele frequency differen ces across worldwide populations, and (iv) identifying possible anomal ous alleles with complex structures.