ABSTRACT
The Humantype Chimera PCR Amplification Kit contains 12 polymorphic loci (ACTBP2 (= SE33), D18S51, D4S2366, D6S474, D8S1132, D12S391, D2S1360, D3S1744, D5S2500, D7S1517, D10S2325, D21S2055), of which the latter 10 loci have not been used extensively for human identity testing. The sex determinant locus amelogenin is also included in the kit. Amplification was successful on a variety of thermal cyclers and the amplicons could be analyzed on both the ABI PRISM 310 and 3100 Genetic Analyzers. Complete genotyping results from single source samples were possible between 0.25 and 2 ng of DNA template. Heterozygote imbalance (< 60% peak height balance) caused by stochastic effects was observed at a rate of around 5%. No deviations from the Hardy-Weinberg equilibrium were observed. Thus, there were no detectable significant deviations from the expected genetic independence of alleles.
Subject(s)
Genetics, Population/instrumentation , Genetics, Population/methods , Microsatellite Repeats , Polymerase Chain Reaction/instrumentation , Polymerase Chain Reaction/methods , Europe , Female , Gene Frequency , Genotype , Heterozygote , Humans , Male , Paternity , Reproducibility of Results , Spectrometry, Fluorescence , White PeopleABSTRACT
The molecular origin of DNA mutations and the mutation rates were analyzed at 14 short tandem repeat (STR) loci with samples from trio cases derived from 10 different German population samples. STR loci comprised of D2S1360, D3S1744, D4S2366, D5S2500, D6S474, D7S1517, D8S1132, D10S2325, D12S391, D18S51, D19S246, D20S480, D21S226, and D22S689. In a total of 488 meioses, 16 isolated genetic inconsistencies in 8 different STRs were observed, whereas no mutations were found at the other loci. The data of five mutations suggested the presence of silent or null alleles due to sequence variation in primer binding site. This could be confirmed for four suspected cases by the use of alternative primer sets and by DNA sequence analyses. Furthermore, this study revealed nine new allelic variants at five different loci.
