Dental identification using digital images via computer network.

Dental identification is a useful scientific method. In Japan, however, there are only a few forensic odontologists; moreover, until now, forensic dental services have only been offered by general dentists. These dentists may not be able to offer such forensic services during office time. For a quick comparison, the authors tried sending digital photos, taken with a 2-million-pixel digital camera, to dental offices via the Internet. If a dental office has Internet access, it is possible for dental charting to be sent directly to the autopsy room. Of course, digital images only provide the first outline. However, when antemortem dental records of the person in question are available at autopsy, a quick comparison can be made.

Complete androgen insensitivity in a 47,XXY patient with uniparental disomy for the X chromosome.

We describe a unique patient with complete androgen insensitivity syndrome and a 47,XXY karyotype. Androgen receptor assay using cultured pubic skin fibroblasts showed no androgen-binding capacity. Sequence analysis of the androgen receptor gene demonstrated two nonsense mutations, one in exon D and one in exon E. Microsatellite marker analysis showed that the patient is homozygous for all five Xq loci examined. The results suggest that the long-arms of the two X chromosomes are identical, i.e., uniparental isodisomy at least for Xq, and carry the same mutations in the androgen receptor gene. This explains how complete androgen insensitivity syndrome occurred in this 47,XXY individual.

[Effect of postmortem change on detection of apoptosis in rats].

Terminal deoxynucleotidyl transferase(TdT)-mediated dUTP-digoxigenin nick end labeling (TUNEL) assay is useful to detect apoptotic cells in situ. We examined by hematoxylin-eosin (H-E) and TUNEL assay whether or not postmortem delay affects the development of apoptotic signals of cells in various organs. Wistar Imamichi rats were radiated by X-ray and sacrificed six hours after radiation. The spleen, thymus, adrenal and testis were excised and kept in a moist chamber at room temperature. Each tissue was fixed after different time intervals 0, 6, 12, 24 hours and paraffin-embedded sections were made. In the no-radiation group, a few of TUNEL positive cells were observed in the spleen, thymus and testis sections, but not in the adrenal. No increase in the number of apoptotic cells was observed with postmortem delay. In the radiation group, we observed in the spleen and thymus, much increase in the number of TUNEL positive cells, of which nuclei were clearly and deeply stained, corresponding to the area where shrinking nuclei were observed in H-E section. In testis sections, there was a little increase in the number of positively stained cells, and no change was observed in H-E section. With postmortem delay, the margin of the TUNEL positive cells changed from clear to indistinct, and the positive area was spread around. Our results show that it is difficult to distinguish apoptotic cells from postmortem change. It is possible, however, to detect TUNEL positive cell together with postmortem changes as the spread of the TUNEL positive area after 24 hours postmortem delay. It is important to consider the effect of the postmortem change when we adapt TUNEL assay to autopsy cases.

ABO genotyping by PCR-direct sequencing.

The PCR-direct sequence method was applied to ABO genotyping. At the 261st nucleotide of the genes of A and B glycosyltrasferase, it was easily detected that the nucleotide was guanine in AA, AB and BB genotypes and that the nucleotide was ademine in only OO. In AO and BO, substitution of A to G was confirmed by the dye primer method, but it was difficult to detect correctly by the dye terminator method. At the 297th, nucleotide substitution between A and B alleles was confirmed by the both methods. As this position, O allele was subdivided into three types, OAOA, OGOG and OAOG. At the 703rd, nucleotide substitution between A and B alleles was easily detected by the both methods. The PCR-direct sequence method was suitable to confirm the nucleotide substitution or deletion directly and to prevent the mistyping by other methods.

[Application of stochastical analysis to maternity testing without putative mother].

In a maternity test in which the putative mother was deceased, the cumulative probability of maternity (PM) was calculated at 0.822 from 24 genetic markers by the stochastical method. This PM may not be evaluated in the same way as that of usual paternity cases. We applied the same method to two families whose blood relationships were undoubted. We compared the PMs in the cases in which maternal genotypes were estimated and were defined. Also, we calculated the PMs in the case of real maternal relationship and false maternal one. The estimated PM from real maternity relationship was significantly higher than that from false maternal one.

Polymorphism of short tandem repeat (STR) loci PLA2, D3S2459, D8S315 (kw38), CYP19, D3S1359, FGA, and D8S1132 in the Japanese and Chinese populations.

We report a study of polymorphism for seven short tandem repeat (STR) loci in Japanese and Chinese populations. Among 104 to 134 individuals in the both population samples, eight alleles were revealed for locus PLA2, thirteen for D3S1359, eleven for FGA, eight for D8S315 (kw38), ten for D8S1132, five for CYP19, and seven for D3S2459. They correspondingly constituted 10 to 39 genotypes therein. For most of the STRs, there was only a single allele active as the most frequent one among the others, except locus D3S1359 in Chinese samples (two alleles, 206 bp and 210 bp, frequency = 0.273 each). Also, the population genotype configurations were locus specific, varying in the patterns of commonest genotypes on each locus, e.g., one pattern for loci CYP19, D3S1359, and D8S315, one and two for loci PLA2 and D3S2459, two for locus D8S1132, and one and four for locus FGA. The distributions of observed genotypes were in Hardy-Weinberg Equilibrium. Furthermore, the seven STRs were exhibited highly polymorphic and informative for the both populations, and the alleles could be easily separated in electrophoresis and correctly interpreted with side-to-side allelic ladders. Together, the results suggest that the tri- and tetra-meric STRs are useful genetic markers for forensic practice.