Search results for "Sequence variation"
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Geographical distribution and oncogenic risk association of human papillomavirus type 58 E6 and E7 sequence variations.
2013
Human papillomavirus (HPV) 58 accounts for a notable proportion of cervical cancers in East Asia and parts of Latin America, but it is uncommon elsewhere. The reason for such ethnogeographical predilection is unknown. In our study, nucleotide sequences of E6 and E7 genes of 401 HPV58 isolates collected from 15 countries/cities across four continents were examined. Phylogenetic relationship, geographical distribution and risk association of nucleotide sequence variations were analyzed. We found that the E6 genes of HPV58 variants were more conserved than E7. Thus, E6 is a more appropriate target for type-specific detection, whereas E7 is more appropriate for strain differentiation. The frequ…
Characterization of mutations and sequence variations in complex STR loci by second generation sequencing
2013
Abstract We used second generation sequencing (SGS) to examine sequence variation and mutational patterns in complex STR loci in Danish paternity cases. Four STR loci, D2S1338, D3S1358, D12S391 and D21S11, were sequenced in 45 samples from 15 confirmed trios with genetic inconsistencies between one of the parents and the child in either the D2S1338 or the D3S1358 loci. In 12 of the 15 cases, SGS revealed the allele that had mutated from the parent. In total, 61 different alleles were found in the 30 unrelated individuals. The highest variation was observed in the D12S391 locus and the lowest one in the D3S1358 locus. The four STR loci are good candidate loci for future SGS kits for forensic…