Slippage mutation rates in 15 autosomal short tandem repeat loci for forensic purposes in a Southeastern Brazilian population
ELECTROPHORESIS
Authors: Remus Hamester, Fernanda Irma; da Silva, Debora Santos; Magalhaes Leboute, Ana Paula; Ares Motta, Carlos Henrique; Alho, Clarice Sampaio
Abstract
Well-defined estimates of mutation rates in highly polymorphic tetranucleotide STR loci are a prerequisite for human identification in genetics laboratory routines useful for civil and criminal investigations. Studying 15 autosomal STR loci of forensic interest (CSF1PO, D2S1338, D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, D19S433, D21S11, FGA, TH01, TPOX, and vWA), we detected 193 slippage mutations (189 one-step and four two-step mutations) in 148 875 parent-child allelic transfers from 5171 paternity cases with true biological relationship (15 096 individuals; 4754 trios and 417 duos; 9925 meiosis) from the state of Sao Paulo, a very representative population of Brazil. The overall mutation rate was 1.3 x 10(-3) and the highest rates were observed at loci vWA (2.8 x 10(-3)), FGA and D18S51 (2.7 x 10(-3) for both), while loci TH01 and TPOX did not present any mutations. The mean slippage mutation rate of paternal origin (1.8 x 10(-3)) was six times higher than that observed for maternal origin (0.3 x 10(-3)).
Genetic diversity of 21 autosomal STR loci in the Han population from Sichuan province, Southwest China
FORENSIC SCIENCE INTERNATIONAL-GENETICS
Authors: He, Guanglin; Li, Ye; Wang, Zheng; Liang, Weibo; Luo, Haibo; Liao, Miao; Zhang, Ji; Yan, Jing; Li, Yingbi; Hou, Yiping; Wu, Jin
Abstract
Exploration of the ethnic origin and genetic differentiation of 56 Chinese officially recognized nationalities populations played a fundamental role in the research field of population genetics, forensic science, linguistics, anthropology, and archaeology. In the present study, population data of 21 autosomal STR loci (CSF1PO, D10S1248, D12S391, D13S317, D16S539, D18S51, D19S433, D21S11, D2S1338, D2S441, D3S1358, D5S818, D6S1043, D7S820, D8S1179, FGA, Penta D, Penta E, TH01, TPOX, and vWA) included in the AGCU EX22 kit in 2793 Southwest Han Chinese individuals was obtained and population genetic relationships among 28 Chinese populations were investigated. Our study indicated that the twenty-one autosomal STRs are highly polymorphic in the Sichuan Han population and can be used as a powerful tool in the routine forensic usage. MDS and phylogenetic analysis suggested that the Sichuan Han population kept a close genetic relationship with the southwest populations. (C) 2017 Elsevier B.V. All rights reserved.
COA
Publication 
Loading ......
