Biomedical subjects

Diane J Rowold

Publications and source records attributed to Diane J Rowold.

3 recordsLinked to original sources

PubMed2005

On human STR sub-population structure.

This study is an investigation of genetic variation among the CODIS (combined DNA index system) STR (short tandem repeat) reference collections. The analysis was conducted in two parts. The first is an overall comparison (G-test) of allelic frequency distributions for 12 STR loci among 19 forensic databases representing various major groups and ethnic populations. In the second phase of the study, the impact of database replacement on DNA profile frequencies and inclusion probabilities is examined. The G-test results reveal clear allelic frequency differences among the major divisions, and, in some cases, among ethnically distinct subdivisions of the same major group affiliation. Other results indicate that database substitution may sometimes lead to substantial alterations in individual inclusion probabilities. Furthermore, there are numerous instances in which an allele present in some databases is missing in others. Fortunately, in most cases, these effects may not be forensically significant due to the increased discriminatory power of the STR markers employed in the CODIS system. However, differences in inclusion probabilities may become critical in situations in which DNA quantity is severely limited and/or compromised by degradation since, in these cases, the power of forensic STR analysis may be mitigated by reducing the number of informative loci.

DNA Fingerprinting↗

PubMed2003

Inferring recent human phylogenies using forensic STR technology.

STR loci are characterized by extremely high mutation rates and thus, high levels of length polymorphism both within and among populations. In addition, much of the observed variation is believed to be nearly selectively neutral. Because of these features, STRs are ideal markers for genetic mapping, intra-species phylogenetic reconstructions and forensic analysis. In the present study, we investigate the application of five STR loci (CS1PO, TH01, TPOX, FGA and vWA) routinely used in forensic analysis for delineating the phylogenetic relationships of 10 human populations representing the three major racial groups (African-Caribbean, Croatian from the island of Hvar, East Asian, Han Chinese, Italian, Japanese, Portuguese, UK Caucasian, US Caucasian and Zimbabwe). The resulting tree topology exhibited strong geographic and racial partitioning consistent with that obtained with mtDNA haplotypes, Y-chromosome markers, SNPs, PAIs (polymorphic Alu insertions) as well as classic genetic polymorphisms. These findings suggest that forensic STR loci may be particularly powerful tools and provide the necessary fine resolution for the reconstruction of recent human evolutionary history.

DNA Fingerprinting↗

PubMed2002

On the genetic uniqueness of the Ami aborigines of Formosa.

In the attempt to reconstruct the prehistory of Pacific and Indian Ocean populations, Taiwan's aborigines appear to be of particular interest. Linguistic and archeological evidence indicates that the dispersal of Austronesian speakers throughout the islands of Oceania and Southeast Asia may have originated from Taiwan about 5,000 years ago. The Ami are Taiwan's largest aboriginal group. Here, we report on six polymorphic point mutation loci in Ami individuals and compare allelic frequencies to worldwide populations. In order to examine the genetic characteristics and relationships of the Ami aborigines, we used the allelic frequency data to generate expected heterozygosities, power of discrimination values, maximum likelihood phylogenetic trees, principal component maps, and centroid gene flow plots. These analyses argue for the genetic isolation and uniqueness of the Ami people. Data supportive of limited gene flow and/or small population size, as well as genetic similarities to Native Americans, were observed.

Biological Evolution↗