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At least 415 records · Page 23Linked to original sources
PubMed2005

Population genetics for Y-chromosomal STRs haplotypes of Chinese Tibetan ethnic minority group in Tibet.

Y-chromosomal STRs loci were analyzed from a sample of 119 healthy unrelated autochthonous male individuals of Chinese Tibetan ethnic minority group using a multiplex PCR system. Allele and haplotype frequencies for DYS19, DYS389 I, DYS389 II, DYS390, DYS391, DYS392, DYS393, DYS385a,b, DYS438, and DYS439 were determined by the Y-PLEXtrade mark 12 kit. The gene diversity values for the Y-STRs loci ranged from 0.3347 (DYS438) to 0.9547 (DYS385a,b). A total of 110 haplotypes were identified in the Y-STR loci, among which 104 were unique, while six occurred more than once. The overall haplotype diversity for the Y-STRs loci was 0.9981, and the discrimination capacity was 0.9897. The results in the present study can be used for routine forensic application in the region, and enrich Chinese ethnical genetic informational resources.

Chromosomes, Human, Y↗
PubMed2006

Population genetic data for 18 STR loci in Costa Rica.

Allele frequencies for 18 STR autosomal loci (D3S1358, VWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317, D7S820, D16S539, TH01, TPOX, CSF1PO, Penta D, Penta E, D19S433, D2S1338 and SE33) were obtained from a sample of 191-500 unrelated individuals from Costa Rica, Central America.

Costa Rica↗
PubMed2006

Population genetic data on D1S80, D17S5, ApoB, COL2A1 and Ig-JH in Northeastern Thais.

Allele frequency distributions at five VNTR loci namely; D1S80, D17S5, ApoB, COL2A1 and Ig-JH were examined in Northeastern Thais. The number of alleles at each locus were 19, 13, 14, 6 and 8 with the heterozygous frequencies of 0.814, 0.818, 0.676, 0.579 and 0.288, respectively. No significant deviations were found by statistical tests for Hardy-Weinberg equilibrium. The combined power of discrimination for all five loci was 0.99998.

DNA Fingerprinting↗
PubMed2000

Mitochondrial genomes of human helminths and their use as markers in population genetics and phylogeny.

To date, over 100 complete metazoan mitochondrial (mt) genomes of different phyla have been reported. Here, we briefly summarise mt gene organisation in the Metazoa and review what is known of the mt genomes of nematodes and flatworms parasitic in humans. The availability of complete or almost complete mtDNA sequences for several parasitic helminths provides a rich source of genetic markers for phylogenetic analysis and study of genetic variability in helminth groups. Examples of the application of mtDNA in studies on Ascaris, Onchocerca, Schistosoma, Fasciola, Paragonimus, Echinostoma, Echinococcus and Taenia are described.

Animals↗
PubMed2001

Sequenced allelic ladders and population genetics of a new STR multiplex system.

The advent of PCR technology and use of short tandem repeat (STR) loci improves throughput and reduces costs whilst a high level of discrimination can be achieved. A new system, comprising seven STRs, was developed to compliment the existing systems. This paper describes the preparation of allelic ladders of the most commonly observed alleles of a new STR multiplex system (third generation; TGM multiplex); all alleles have been sequenced. Meioses studies estimated a mutation rate of 0-0.4% across loci. Statistical independence was investigated by employing exact tests; chi(2)-tests and excess homozygosity tests. The results demonstrated that the allele proportions do not differ from those expected and that there was no consequential dependence between loci. The discriminating power of the system was examined using 295 Caucasian, 140 Afro-Caribbean and 212 Asian unrelated samples, and was found to be approximately 1 in 50 million, 1 in 85 million and 1 in 20 million for each of these groups, respectively.

Alleles↗
PubMed2002

Logical implications of applying the principles of population genetics to the interpretation of DNA profiling evidence.

There have been several efforts to codify the approach to interpreting DNA evidence [National Research Council, The Evaluation of Forensic DNA Evidence, National Academy Press, Washington, DC, 1996; I.W. Evett, B.S. Weir, Interpreting DNA Evidence: Statistical Genetics for Forensic Scientists Sinauer, Sunderland, MA, 1998]. Despite these efforts there are still aspects of ad hoc decision making in modern DNA interpretation. This article discusses some of the remaining areas of concern in this respect. Because of the immense discriminating power of DNA evidence it is unlikely that these concerns would contribute to a miscarriage of justice. They are more likely to lead to lengthy and wasteful debate in court, and to potential appeals. We advocate a previously developed approach to DNA evidence [Sci. Justice 39 (4) (1999) 257; B.S. Weir, in: D.J. Balding, C. Cannings, M. Bishop (Eds.), Handbook of Statistical Genetics, Wiley Series in Probability and Statistics, Wiley, New York, ISBN: 0-471-86094-8, 2001; J. R. Stat. Soc. A 158 (1) (1995) 21] that would give a more solid logical foundation and hopefully lead to sounder and less debatable testimony.

DNA Fingerprinting↗
PubMed2002

Population genetics and functions of the autoimmune regulator (AIRE).

The autoimmune polyglandular syndrome type 1 (APS1), also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APS1), is a monogenic autosomal disease with recessive inheritance. It is characterized by chronic mucocutaneous candidiasis, multiple autoimmune endocrinopathies, and ectodermal dystrophies. The defective gene responsible for this disease has been identified and named "autoimmune regulator" (AIRE). The AIRE gene is located on chromosome 21q22.3. At least 45 different disease-causing mutations in AIRE have been discovered. This review summarizes the global distribution of AIRE mutations and the relevance of major mutations to the clinical disorders associated with APS1. We also will review studies on the structure and DNA-binding ability of the AIRE protein and the possible malfunctions of the AIRE protein as a result of major disease-causing mutations.

Binding Sites↗