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Human Y-chromosomal STR types in north Thailand.

A north Thai Y-haplotype database consisting of the loci DYS19, DXYS156-Y, DYS390, DYS391, DYS392, DYS393, and the four subsegments of DYS389 is presented. We observed 44 Y-types in 50 unrelated Thais, and the haplotype diversity was calculated to be 97.36%. No Y-types were shared with a sample of 55 Japanese, but 3 matches were found in a sample of 61 Han Chinese, and there was one Thai-German match in a larger west German sample (n = 179).

Gene Frequency↗

Spanish population data on the four STR loci D8S1179, D16S539, D18S51 and D21S11.

Population data were generated for four tetrameric short tandem repeat loci systems (D8S1179, D16S539, D18S51 and D21S11) for a Spanish Caucasian population sample (n = 218-219 individuals) using PCR. All loci were highly polymorphic, met Hardy-Weinberg expectations and the results demonstrated the assumption of independence of the loci analysed. The allele frequency data can be used in identity testing to estimate the frequency of a multiple PCR-based DNA profile in the Spanish population.

Alleles↗

Y-chromosomal STR haplotypes in a population sample from Bavaria.

The seven Y-chromosomal STRs DYS 19, DYS385 I/II, DYS389 I/II, DYS390, DYS391, DYS392 and DYS393 were amplified using two multiplex PCRs. The optimization of the PCR conditions led to reliable and sensitive systems. Co-amplification of the amelogenin locus was possible in both multiplex systems. In a population sample of 151 Bavarian males, a gene diversity of 0.99 was observed. Sensitivity studies revealed a detection limit of 50 pg DNA per 25 microl reaction volume. PCR experiments with combinations of male/male and male/female DNA showed that in male/male mixtures, the minor component could be detected up to a ratio of 1:15, whereas in male/female mixtures the male component could be found in a higher ratio up to 1:60.

Blood Stains↗

Statistical analysis for estimating heterogeneity of the Korean population in DNA typing using STR loci.

The coancestry coefficients for the Korean population are estimated by using 3 statistical methods for 17 loci (D3S1358, D21S11, D13S317, D18S51, D7S820, D8S1179, D5S818, FGA, VWA, F13A1, FES/FPS, THO1, TPOX, CSF1PO, D12S391, GABA and ACTBP2). The subpopulations were considered by last name and home origin, respectively. Our results show that the values for the coancestry coefficient for the Korean population are too large to ignore although they do not show substantial heterogeneity. These estimated values are also applied to simulated forensic cases.

Forensic Medicine↗

Genetic variability at nine STR loci in the Chueta (Majorcan Jews) and the Balearic populations investigated by a single multiplex reaction.

A study of the genetic variability in the Chueta (Majorcan Jews) and the Balearic (Majorca and Minorca Islands) populations was carried out using a multiplex system containing the nine tetrameric STRs D3S1358, vWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317 and D7S820. The Chueta population has remained isolated because intermarriage with non-Jews did not take place until the middle of this century, which has resulted in it being a small inbred community. The results indicate the existence of HW equilibrium for the Chueta and Balearic populations. No pair-wise correlation was observed between the nine markers. Consequently, they seem to comprise a suitable group of markers for population genetics purposes and for paternity and forensic testing.

DNA↗

STR polymorphisms of "forensic loci" in the northern Han Chinese population.

A preliminary Chinese DNA database has been constructed by the analysis of samples from 2,211 Han Chinese in Liaoyang City, northeast China. Thirteen autosomal tetranucleotide short tandem repeats (STRs) widely used in forensic identification were selected for the DNA profiling, together with the X-Y homologous gene Amelogenin for sex determination. Only one of the 13 autosomal loci showed significant deviation from Hardy-Weinberg equilibrium in the individuals genotyped. The cumulative discrimination power and power of exclusion of the 13 loci were greater than 0.999999999 and 0.9999888, respectively, giving an average match probability of 5.5 x 10(-15) for the population. Allelic distributions at the vWA, TH01, D13S317, and D16S539 loci differed from African-Americans and US Caucasians, and more detailed population data at these four loci may be needed to ensure their applicability for forensic purposes in Chinese populations. Previously unreported alleles were detected at several loci (some at relatively high frequencies), suggesting the need for their inclusion in the reference allelic ladder to meet the practical standard of forensic profiling in certain Chinese ethnic sub-populations. The preliminary DNA database provides base-line information applicable to the construction of a National Index System for criminal DNA profiling in PR China.

Alleles↗

The petFI gene encoding ferredoxin I is located close to the str operon on the cyanelle genome of Cyanophora paradoxa.

The petFI gene encoding ferredoxin I was localized in the large single copy region of cyanelle DNA by heterologous hybridization. Sequence analysis revealed an ORF of 99 amino acids (including the N-terminal processed methionine) at a position 477 bp from the 3' end of tufA but on the opposite strand. The 25 amino-terminal residues well corresponded to partial sequences obtained with purified cyanelle ferredoxin. The assignment of yet another gene that is not found on the genomes of chlorophyll b-type plastids to cyanelle DNA again corroborates the special position of cyanelles serving as a model for plastid evolution from endocytobiotic cyanobacteria.

Amino Acid Sequence↗

Estimation of mutation rates from parentage exclusion data: applications to STR and VNTR loci.

Nonpaternity is a common source of bias in estimating mutation rates when they are obtained from family data showing discordance of parental and children's genotypes. With the availability of hypervariable DNA markers, this source of bias can be largely eliminated. However, the proportion of cases where parentage exclusion is caused by presumed mutation(s) of parental alleles must be adjusted to obtain a valid mutation rate estimate. The present work derives the basis of this adjustment factor, called the proportional bias. This proportional bias depends upon the allele frequency distribution at the locus. The maximum and minimum bounds of the proportional bias depend on the number of alleles at the locus. Using data from Caucasian populations at tandem repeat loci commonly used for parentage testing and forensic identification purposes, we show that when mutation rates are estimated at these loci, the proportional bias is generally very close to the maximum possible value for the observed number of alleles (or binned fragment sizes) at each locus. The expected proportional bias decreases with increasing mutation rate at a locus. For the short tandem repeat loci, without bias correction, the direct count method can result in an underestimation of up to 60% of their true value. In contrast, for the minisatellite VNTR loci, even with crude measurements on allele sizes, we show that the absolute proportional bias is generally below the coefficient of variation of the direct estimates.

Chromosome Mapping↗

Investigation of the STR locus HUMTH01 using PCR and two electrophoresis formats: UK and Galician Caucasian population surveys and usefulness in paternity investigations.

Two hundred unrelated Caucasians from the UK and 210 from Galicia (NW Spain) have been genotyped for the HUMTH01 locus using polymerase chain reaction (PCR) amplification followed by high sieving agarose electrophoresis (UK samples) and polyacrylamide electrophoresis (Galician samples). Allele and genotype frequencies obtained from both populations were in close agreement to those seen by other workers and chi 2 tests of the two populations showed that both were in Hardy-Weinberg equilibrium. The potential usefulness of HUMTH01 in paternity investigations was analysed by constructing, within each population, false family trios, each with a non-father, in order to estimate the actual exclusion rate. The observed rate of exclusion was in close agreement with the expected rate for both populations. Examination of the mother-child pairs in the false families showed a common allele in every case and no evidence of mutation or non-Mendelian inheritance was observed. The HUMTH01 locus shows an informative polymorphism and the production and analysis of population databases is easily achieved. The use of PCR followed by electrophoresis in either gel format appears to provide a quick and straightforward method for investigating the HUMTH01 locus.

Adult↗

Validation of the STR system FXIIIB for forensic purposes in an Austrian population sample.

The short tandem repeat system FXIIIB was amplified by the polymerase chain reaction (PCR) on blood samples from 201 unrelated Austrians and analyzed by horizontal, non-denaturing polyacrylamide gel electrophoresis. The mean exclusion chance was 0.496, the discriminating power 0.883 and the heterozygosity rate 78.61%. In 50 families (100 meioses) no mutations were found. Sufficient amplification could be achieved with as little as 80 pg of high molecular weight cell line DNA, which could be reduced to 60 pg by using 32 instead of 30 cycles. By reamplifying 1 microliter for another 15 cycles, the threshold could be reduced to less than 20 pg. Nevertheless this sensitivity was only possible with cell line DNA, since reamplification of simulated stains proved to be problematical due to artifacts. In a degradation experiment. DNA extracted from bloodstains stored for up to 26 days in a moist chamber and DNA boiled for up to 18 min could be amplified. A quadruplex PCR with VWA, FES and amelogenin is proposed.

Alleles↗

Mapping contacts of the S12-S7 intercistronic region of str operon mRNA with ribosomal protein S7 of E. coli.

In E. coli, S7 initiates 30S ribosome assembly by binding to 16S rRNA. It also regulates translation of the S12 and S7 cistrons of the 'streptomycin' operon transcript by binding to the S12-S7 intercistronic region. Here, we describe the contacts of N-terminally His(6)-tagged S7 with this region as mapped by UV-induced cross-linking. The cross-links are located at U(-34), U(-35), quite distant from the start codons of the two cistrons. In order to explain the mechanism of translational repression of S12-S7, we consider a possible conformational rearrangement of the intercistronic RNA structure induced by S7 binding.

Base Sequence↗