Population studies on Caucasians from northwest Germany were carried out using the short tandem repeat (STR) systems SE 33 (Locus: ACTBP2) and TC 11 (Locus: 11p15.5). After electrophoresis in PAG 26 alleles could be identified for SE 33 in a sample size of 180 unrelated individuals and 6 alleles were found for TC 11 in 110 individuals. The combined mean exclusion chance for both systems was 0.96 and the discrimination index 0.999. No significant deviations from Hardy-Weinberg equilibrium could be demonstrated. In a small sample of families (SE 33 - n = 21; TC 11 - n = 30) no new mutations could be found. Positive and reproducible results for both STRs could be obtained from 50 pg template DNA.
We amplified, via PCR, DNA segments from intron 1 of the tyrosine hydroxylase gene (TH01) and intron 40 of the von Willebrand factor gene (VWA) in ten nonhuman primate genera. In humans both introns contain polymorphic microsatellites with tetrameric repeats. Compared to the allelic ranges in human populations relatively short repeat arrays could be detected for the nonhuman primates typed, presumably reflecting an ancient precursor state at both microsatellite loci. Furthermore, our results provide evidence for an association of the average number of repeats present in different primate genera and their divergence time from man. DNA sequencing of VWA orthologues revealed a relatively high variability in the arrangement of repeats in the 5'-repeat arrays, the generation of which could probably be explained by polar mutational events.
A total of 103 fragments in the STR D12S391 locus were sequenced. 24 different alleles were found which can be grouped into 12 allelic classes based on the total number of repeats. The structure of this compound STR consists of blocks of (AGAT) and (AGAC) repeats with a consensus structure (AGAT)8-17 (AGAC)6-10 (AGAT)0-1. Whereas shorter alleles only have (AGAT) repeats, > 225 bp alleles are more complex, having two motifs (AGAT) and (AGAC). Population data showed that this to be a highly polymorphic STR with a heterozygosity of 0.9. This fact together with its simple structure make this STR very suitable for forensic and genetic purposes.
Family studies were carried out in a population sample from north west Germany using 4 amplifiable VNTR polymorphic systems D1S80 (MCT118), ApoB, D17S30 (YNZ22) and COL2A1. Separation was carried out in polyacrylamide gels and visualised using silver staining. In family studies (n = 30) no evidence of new mutations was found. The population study of unrelated individuals (mothers and putative fathers) showed that all 4 systems were highly polymorphic and similar to other population studies. The combined exclusion chance was calculated to be approximately 99% and the combined discrimination index 1.5.10(-4). The Hardy-Weinberg equilibrium was checked by forming groups of alleles and no significant deviations could be found in all systems.
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