Abstract
In this study we continue the genetic characterization of human populations from East Timor, as previously started for autosomal STRs and Y STRs, with a preliminary report on mitochondrial DNA (mtDNA) diversity. Individual samples (n=133) collected from all the districts of East Timor and representing different linguistic groups were studied for the hypervariable region 1 (HVS1) sequence and the 9-bp deletion (intergenic region COII-tRNA lys).57 haplotypes were found (haplotype diversity=0.9727; nucleotide diversity=0.017864; mean number of pairwise differences=7.52) and the 9 bp deletion reached 16.7%. We found typical sequences of non-Austronesian (Papuan) speaking populations from New Guinea, along with a significant frequency of haplogroup B (namely B4a). In addition our overall genetic data (mtDNA, STRs) may serve as a starting-point to create a genetic database for forensic applications in East Timor.
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