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Diversity and heterogeneity in mitochondrial DNA of North American populations.

Variation in the mitochondrial DNA (mtDNA) control region as detected by sequence-specific oligonucleotide (SSO) probes is described for 2282 individuals from African-American, European-American, and Hispanic subpopulations from five broadly defined regions of North America (Northeast, Southeast, Central, Northwest, Southwest). Population diversity estimates were uniformly high for all subpopulations and for each major ethnic group. Only the Pennsylvania Hispanic group was remarkable with respect to its mitochondrial DNA types, having both six low frequency population specific types (ranging from 1.2-8.6%) and three high frequency shared types (10-20% each). There was no statistically significant subpopulation heterogeneity present within any of the three major groups at either the subpopulation level or the regional level (p > 0.01). However, statistically significant heterogeneity was measured when comparing the three major groups to each other, with the variance component attributable to this large division accounting for 18.60% of the total variance (p < 0.001). Overall mtDNA is a satisfactory forensic typing locus within broadly defined African-American, European-American, and Hispanic groups from North America, based on the high diversity estimates and absence of heterogeneity, as characterized by SSO typing.

Black People↗

A new triplex STR system without irregular alleles by silver staining and its potential application to forensic analysis.

In order to increase the discriminating power of DNA analysis in forensic science, we devised a new triplex STR system using three novel STR loci we previously reported, D14S299 (wglc5), D15S233 (wgldl), and 9q2h2. We designated this system a CDH triplex system. The CDH triplex system showed a high discriminating power, especially in Caucasians. This system is composed of three STR loci showing only regular tetranucleotide repeat alleles. We easily enlarged the databases mainly of Japanese, using this system, and compared them with those of Caucasian and Chinese. This CDH triplex system therefore appears to be useful for forensic practice.

Alleles↗

The forensic application of allozyme electrophoresis to the identification of blowfly larvae (Diptera: Calliphoridae) in southern Australia.

Most known carrion-breeding species of blowflies in southern Australia are of the genus Calliphora. The morphological similarity of the immatures of these species means that correctly identifying them poses a challenge for forensic entomologists. This study investigates the potential of allozyme analysis to assist with this task. Molecular profiles of third-instar larvae and adults representing four of these carrion-breeding species, Calliphora stygia, C. dubia, C. hilli hilli, and C. vicina, were compared at 42 allozyme loci. The two life stages were found to display almost identical allozyme profiles in each species (93% of loci were expressed in both life history stages), enabling the reliable identification of larvae in these four species. Integration of these results with data from a previous study indicates that allozyme analysis would also be suitable for rapid, species-level identification of the larvae of six other carrion-breeding Calliphora species occurring in southern Australia. This is the first report of the application of allozyme data to the identification of forensically important blowflies.

Animals↗

Short tandem repeat-based identification of individuals and parents.

Estimation of short tandem repeat (STR) multilocus genotype frequencies for the identification of individuals and estimation of allele frequencies for parentage assignment both depend on (a) testing a lot of loci, (b) high levels of polymorphism at each locus tested, and (c) independence among alleles. Independence is critical, because the estimation of multilocus genotype and gamete frequencies is based on multiplying individual allele frequencies to produce a composite frequency estimate. Independence among alleles at a locus is known as Hardy-Weinberg equilibrium, whereas allelic independence between loci is known as linkage equilibrium. The frequency at which individual identification may be declared is a matter of opinion, as there is no scientific way to specify certainty based on frequency estimates. Similarly absolute assignment of parentage is impossible in theory; in practice it is more difficult than individual identification, because only half as much information is available (gamete vs genotype frequency) and because mutation may confound parentage analysis.

DNA Fingerprinting↗

A compendium of human mitochondrial DNA control region: development of an international standard forensic database.

A compendium of human mitochondrial DNA (mtDNA) control region types has been constructed. This updated compilation indexes over 10,000 population-specific mtDNA nucleotide sequences in a standardized format. The sequences represent mtDNA types from the Scientific Working Group on DNA Analysis Methods (SWGDAM) mtDNA database and from the public literature. The SWGDAM data are considered to be of higher quality than the public data, particularly for counting the number of times a particular haplotype has been observed.

Base Sequence↗

Racial variation in the proximal and distal femur: heritability and forensic utility.

The femur has been studied successfully by physical anthropologists for many years. Such traits as femoral head diameter and bicondylar width have been examined extensively and are of great value to forensic anthropologists and other skeletal biologists in sex identification. A number of studies over the past decade by the author and his former students have shown marked racial differences in the shape of the proximal femur and in at least one trait of the distal femur--intercondylar notch height. Anterior-posterior (AP) diameter of the proximal femur is much greater among Whites and Blacks than among East Asians and American Indians. Blacks have slightly greater intercondylar notch height than Whites. Other features, such as torsion, also differ between the major geographic racial populations. Current analysis suggests that the East Polynesians fall close to the American Indians and East Asians in the degree of flatness of the proximal femur. One study has tracked the degree of change in flatness during individual development, and finds little change within major populations from the youngest to the oldest individuals. Temporal changes within populations are likewise minimal. Two studies have examined sex differences within populations, which are also found to be very slight. Racial differences, on the other hand, are quite significant, and individuals of admixed ancestry fall intermediate between the two parental populations. Such suggestions of high heritability in the shape of the proximal and distal femur make these traits very useful in assessing ancestry in forensic contexts.

Adult↗

Length variation in HV2 of the human mitochondrial DNA control region.

Hair samples were typed from three individuals who exhibited length heteroplasmy in the homopolymeric cytosine stretches (C-stretch) in hypervariable region 2 (HV2). The study demonstrated that for different hairs within an individual, the HV2 C-stretch region can vary with respect to the number of cytosines and/or proportion of C-stretch length variants. Length heteroplasmy may occur regardless of the prominent length variant present in this region. Differences in the number of cytosines at the C-stretch region, or a variation in the relative amounts of heteroplasmic length variants, cannot be used to support an interpretation of exclusion.

Amino Acid Sequence↗

DNA fingerprinting. The future of forensic dentistry--a review.

Forensic dental identification is at technological cross roads. The incidence of dental restorations, the mainstay of radiographic dental investigations, have declined. Whereas molecular biology laboratory procedures are rapidly increasing in efficiency and availability. With new typing techniques forensic scientists can characterize individuals at the fundamental level of their DNA, and variations between individuals at this level can be used to discriminated between them. The anatomical location of teeth and the extent to which teeth may suffer environmental changes and still provide useful DNA material has propelled forensic odontology. The techniques of DNS fingerprinting, the role of teeth as a source of DNA material and its feasibility is discussed in relatively simple terms.

DNA↗