| Summary: | Made available in DSpace on 2015-04-14T14:51:32Z (GMT). No. of bitstreams: 1
459408.pdf: 1270061 bytes, checksum: a4594eb8c40c25e57008dc9d40066c93 (MD5)
Previous issue date: 2014-02-24 === We evaluated haplotype and allele frequencies, as well as statistical forensic parameters, for 23 Y-chromosome short tandem repeats (STRs) loci of the PowerPlex?Y23 system (DYS19, DYS385a/b, DYS389I/II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635, Y-GATA-H4, DYS481, DYS533, DYS549, DYS570, DYS576, DYS643) in a sample of 150 apparently healthy males, resident in south Brazil. A total of 150 different haplotypes were identified. The highest gene diversity was observed for the single locus marker DYS570 (GD = 0.7888) and for a two-locus system DYS385 (GD = 0.9009). We also examined 150 father-son pairs by the same system, and observed a total of 13 mutations were identified in the 3,450 father-son allelic transfers, with an overall mutation rate across the 23 loci of 3.768 x 10-3 (95% CI = 3.542 x 10-3 to 3.944 x 10-3). In all cases there was only one locus mutated with gain/loss of repeats in the son (5 one-repeat gains, and 7 one-repeat and 1 two-repeat losses); we observed no instances of mutations involving a non-integral number of repeats. === Foram avaliadas as frequ?ncias al?licas e haplot?picas, bem como os par?metros estat?sticos forenses, para 23 l?cus Short Tandem Repeat (STRs) de cromossomo Y presentes no kit comercial PowerPlex?Y23 system (DYS19, DYS385a/b, DYS389I/II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635, Y-GATA-H4, DYS481, DYS533, DYS549, DYS570, DYS576, DYS643) em uma amostra de 150 homens saud?veis, residentes no sul do Brasil. Um total de 150 hapl?tipos diferentes foram identificados. A maior diversidade gen?tica foi observada para o marcador de l?cus ?nico DYS570 (GD = 0,7888) e para o l?cus duplo DYS385 (GD = 0,9009). Tamb?m foram analisados 150 de pares de pai-filho pelo mesmo sistema, e um total de 13 muta??es foram observadas em 3.450 transfer?ncias al?licas entre pais-filhos, com uma taxa geral de muta??o nos 23 l?cus de 3.768 x 10-3 (95% CI = 3.542 x 10-3 - 3.944 x 10-3). Em todos os casos foi encontrado apenas um l?cus mutado com ganho ou perda de repeti??es no filho (5 ganhos de repeti??o ?nica, 7 perdas de repeti??o ?nica e 1 perda de dupla-repeti??o). N?o foi observado nenhum caso de muta??o envolvendo um n?mero n?o integral de muta??es.
|
|---|
