Japaneseplex: A forensic SNP assay for identification of Japanese people using Japanese-specific alleles.

It is sometimes necessary to determine whether a forensic biological sample came from a Japanese person. In this study, we developed a 60-locus SNP assay designed for the differentiation of Japanese people from other East Asians using entirely and nearly Japanese-specific alleles. This multiplex assay consisted of 6 independent PCR reactions followed by single nucleotide extension. The average number and standard deviation of Japanese-specific alleles possessed by an individual were 0.81 ±â€¯0.93 in 108 Koreans from Seoul, 8.87 ±â€¯2.89 in 103 Japanese from Tottori, 17.20 ±â€¯3.80 in 88 Japanese from Okinawa, and 0 in 220 Han Chinese from Wuxi and Changsha. The Koreans had 0-4 Japanese-specific alleles per individual, whereas the Japanese had 4-26 Japanese-specific alleles. Almost all Japanese were distinguished from the Koreans and other people by the factorial correspondence and principal component analyses. The Snipper program was also useful to estimate the degree of Japaneseness. The method described here was successfully applied to the differentiation of Japanese from non-Japanese people in forensic cases. This Japanese-specific SNP assay was named Japaneseplex.

Non specific drug distribution in an autopsy case report of fatal caffeine intoxication.

Caffeine has long been recognized as an addictive substance that causes autonomic nerve effect, and is known to increase catecholamine secretion from the adrenal glands. In recent years, the risk of ingesting toxic levels of caffeine has increased because of the easy availability of analgesics, CNS (Central Nervous System) stimulant medicine and dietary supplements at shops, health stores and through online purchases. We report the death of a young female resulting from the ingestion for suicide of an online purchased sleepiness-preventing medicine containing caffeine. The autopsy findings included pulmonary edema and congestion plus cutaneous emphysema. The stomach contents included a dark-brown viscous fluid without tablet or food residue. Toxicological examination revealed the presence of caffeine in the right heart blood (154.2 µg/mL) and stomach contents (197.5 µg/mL) (lethal blood level, >80 µg/mL). The highest caffeine content was in the bile (852.3 µg/mL). Biochemical findings showed that catecholamine concentration in the peripheral blood in the iliac vein was elevated. Immunostaining of catecholamine was weak in the adrenal medulla. We recommend highlighting the toxicity risk of ingesting substances with a high caffeine concentration, and we propose that caffeine concentrations should be included in the comprehensive routine forensic toxicological tests for all cases.

MATP polymorphisms in Germans and Japanese: the L374F mutation as a population marker for Caucasoids.

Inference of the population and ancestry to which an individual belongs is important in forensic individualization and personal identification. In this study, five polymorphisms of the membrane-associated transporter protein (MATP) gene were investigated in German and Japanese populations. The L374F mutation was present at an allele frequency as high as 0.96 in the German population, whereas it was completely absent in the Japanese population. This extreme difference in allele frequency suggests that the L374F mutation is valuable as a population and ancestry informative marker for Caucasoids.

Molecular analysis of the human esterase D gene ESD(*)Q0(yonago) responsible for incompatibility in a Japanese paternity case.

In a Japanese paternity test, an alleged father was excluded only by reverse homozygosity of esterase D (ESD) phenotypes (mother, ESD 1; child, ESD 1; alleged father, ESD 2) out of 43 classical and DNA markers investigated. To solve the aberrant inheritance of the ESD phenotypes observed between them, fragments for all eight coding exons amplified by polymerase chain reaction (PCR) were subjected to DNA analysis. The child and alleged father shared a null allele, originating from ESD(*)1. It was characterized by having TGA for the stop codon instead of TCA for serine at codon 63. Thus, the sharing of a rare null gene, ESD(*)Q0(yonago), increased the probability of paternity.