Polymorphism of 17 STRs by multiplex analysis in Japanese population.
Genotype and distribution of allele frequencies at 17 STRs were studied in 526 unrelated Japanese individuals using the PowerPlex 16 system and the AmpFlSTR Identifiler.
Biomedical subjects
Publications and source records attributed to M Funayama.
Genotype and distribution of allele frequencies at 17 STRs were studied in 526 unrelated Japanese individuals using the PowerPlex 16 system and the AmpFlSTR Identifiler.
The concentrations of ethanol in peripheral blood, subdural hematomas and various regions of the brain were determined 1, 2, 4, and 6 h after the induction of a hemorrhage into a subdural space in the right temple of rabbits. The concentrations were compared to cases of intravenous administration of ethanol-free i.v. fluid. Concentrations of ethanol in the subdural hematomas gradually decreased to correspond to those in the peripheral blood. The influence of an intravenous infusion of ethanol-free i.v. fluid was not observed. Concentrations in the brain of the right temporal, parietal and frontal lobes were high and those in the right temporal lobe were maintained during the 6 h of our experiment. Therefore, to determine if a human victim was under the influence of ethanol at the time of injury, we recommend that brain concentrations of ethanol be determined. This is apparently the first study to confirm that the estimation of ethanol in the brain provides a more accurate determination of how much ethanol had been ingested.
This article describes regional differences in the homicide patterns which occurred in Sapporo City and the surrounding area, and in Akita, Ibaraki, Chiba and Toyama prefectures in Japan. Information collected from each case of homicide included factors such as age, sex of the victim and assailant, causes of death, disposition of the offender, relationship between assailant and victim, reasons for criminal action, et al. The statistical features of homicidal episodes among the five different regions showed considerable variation, as follows. The mean death rates for homicide (number of victims per 100,000 of population) during the period 1986-1995 were 0.44 (Sapporo), 0.8 (Akita), 0.58 (Toyama), 0.7 (Ibaraki) and 0.75 (Chiba), respectively. Close family relationship between the victim and assailant was observed in the homicidal acts which occurred in Sapporo, Akita and Toyama. Assailant's relationship to victim was commonly extra-familial in Ibaraki and Chiba-neighboring megalopolis Tokyo, where some events of murder by a foreigner occurred. Homicide by female assailant, murder by mentally abnormal killers and homicide-suicide events were closely associated with family members. And these factors contributed to the considerable number of victims in Sapporo, Akita and Toyama. But, this close family relationship of the victim to the assailant did not correspond with the elevation in the number of deaths, and it was rather inversely related to the higher death rates recognized in Ibaraki and Chiba. This comparative study suggested that rapid urbanization considerably affects regional differences in homicide patterns.
A 35-year-old woman, a chronic alcoholic, died from an intracerebral haematoma 10 hr after she fell downstairs. Some subcutaneous bleeding was seen on the head and face, but there were no new skull fractures and surface contusions of the brain. She appeared to have few predisposing conditions for non-traumatic cerebral haemorrhage. In addition, the haematoma was mainly located "lateral" to the basal ganglia, not where hypertensive bleeding most commonly occurs, and subdural and haemorrhage in the corpus callosum was found with subdural/and subarachnoid haemorrhage. We concluded that on falling a shearing strain from a rotating force produced the intracerebral haemorrhage, but without skull fractures and surface contusions of the brain. She had been admitted to a neurosurgical hospital just 11 months before this incident because of an epidural haemorrhage with left temporal bone fracture. Mild thrombocytopenia was found during that hospitalization. In this report, this abnormality was thought to have some relation to the formation of the huge haematoma occurring after the intracerebral bleeding started.
In 1988, Ramsay et al proposed an entity of acral pseudolymphomatous angiokeratoma of children (with an abbreviation of APACHE) for the unilateral multiple angiomatous papules affecting the acral region of the extremities of children. We report here similar lesions that developed in the acral portions of 1 female adolescent and 2 women. Histopathologically, they showed pseudolymphomatous features rather than those of angiokeratoma. Thus, the term should be acral angiokeratoma-like pseudolymphoma would be more appropriate than APACHE originally proposed.
Diatom concentrations in seawater were examined monthly at four aquatic areas. Diatom concentrations inside a bay showed a monthly variation, but these were detectable. On the other hand, in the open sea around the continental shelf break, there were few diatoms in any season. When a person drowns in the open sea, the diatom test cannot be expected to function reliably.
A case of acute hemorrhagic edema (AHE), a unique form of leukocytoclastic vasculitis limited only to the skin, was seen in a four-year-old boy. It was characterized by an abrupt onset of fever, peripheral edema, and rosette-shaped purpuric plaques. Although the skin lesion might be confused clinically with other dermatoses such as Henoch-Schönlein purpura, Sweet's disease and erythema multiforme, his laboratory data were normal, and the disorder follows a benign course with spontaneous resolution within one week.
We examined whether autosomal dominant parkinsonism of a Japanese family, Sagamihara family, was due to the mutations of alpha-synuclein, parkin, tau, and UCH-L1, which have been reported as the causal genes for parkinsonism in other families. Restriction-enzyme digestion of polymerase-chain reaction (PCR) amplified genomic DNA fragments of alpha-synuclein exons 3 and 4 detected no point mutation. PCR-amplification of parkin exons 3, 4, 5, 6 and 7 detected no exon deletion. Direct sequencing of PCR-amplified DNA fragments of tau exons 9, 10, 12, and 13 and intron 10, and of UCH-L1 exon 4 revealed that all these exons and intron were normal including a polymorphic nucleotide substitution. These results indicated that the parkinsonism of the Sagamihara family seems not to be due to previously identified point mutations of alpha-synuclein, tau, or UCH-L1, or to exon deletion of parkin.
Interleukin-6 (IL-6) has been considered as an important mediator of inflammation. Clinically it is a well-known marker of the severity of injury following major trauma. In this study, the levels of IL-6 in body serum were applied to a traumatic death index. Of ninety victims 55 were men and 35 women, with a mean age of 53.4+/- 19 (S.D.) years. The cases were classified as traumatic deaths (38 cases), non-traumatic deaths other than natural causes of deaths (36 cases), and deaths due to natural causes (16 cases). All samples were collected within 2 days after death. The mean values of IL-6 levels of the traumatic, non-traumatic and disease groups were 8608.97, 2205.65, and 3266.64 pg/ml, respectively. Some cases in non-traumatic and disease cases were beyond 10 000 pg/ml, however, the mean value of the traumatic group was statistically higher than that of the other two groups. Even though several cases had high levels of IL-6 in spite of instantaneous death, the results showed that IL-6 levels are helpful in the diagnosis of traumatic shock.
We report a case of infant death due to scurvy, which is very rare in Japan. We initially had little knowledge of the disease and suspected that the bleeding in the body was caused by domestic violence. The case did not fall under the category of the battered child syndrome but the death was caused by ignorance with respect to child care. In addition the parents usually locked the child alone in a room during the day and this is probably a case of neglect.
The present study was designed to investigate by using enzyme-linked immunosorbent assay and reverse transcriptase-polymerase chain reaction methods whether photochemotherapy (PUVA) or ultraviolet (UV) B treatment affects C3 production by interferon (IFN)-gamma-stimulated keratinocytes cultured in serum-free medium. The results showed that PUVA and UVA reduced C3 production by IFN-gamma-stimulated epidermal keratinocytes dose-dependently, although the effect of PUVA was stronger than that of UVA alone. Interestingly, UVB induced an enhancement of C3 production at doses ranging from 10 to 50 mJ cm-2. This phenomenon was found at both the protein and mRNA levels. In every experiment, changes in C3 mRNA levels preceded those in its protein levels. Reduced C3 production at higher doses of 75 and 100 mJ cm-2 were probably due to cytotoxic effects of UVB. In our experimental system, PUVA, UVA or UVB treatment did not affect C3 production without IFN-gamma stimulation. Our results suggest that a reduction in C3 production by PUVA treatment may in part explain the efficacy of PUVA in the treatment of inflammatory dermatoses such as psoriasis, while the results of the UVB experiments may partially explain the proinflammatory nature of UVB.
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.
We describe two suicide cases in which old paraquat was ingested. In conjunction with lung involvement a pronounced degeneration was observed in skeletal muscle of one who died on the 14th day after the ingestion. The following sarcoplasmic or endoplasmic reticulum Ca2+ ATPase (SERCA) monoclonal antibodies were used for skeletal muscle fiber typing by an immunohistochemical method: NCL-SERCA1, reactive with type 2 fiber (fast-twitch), and NCL-SERCA2, reactive with type 1 fiber (slow-twitch). The examination revealed that the remarkably degenerated fibers belonged to type 1 muscle fibers. This case showed an abrupt increase of plasma CK levels (1796 mU/ml) on the fifth day after the ingestion. The authors presume that the damage to the skeletal muscle had occurred in this period. The degeneration of the muscle seemed to be attributable to the long retention of paraquat in the tissue because these findings were not observed in the other case who died on the fifth day. Paraquat-induced myopathy may develop in prolonged paraquat poisoning. The examination of CK levels in plasma will be useful for diagnosis of damage of skeletal muscle.
Allele frequencies for the eight STR loci Hum-CSF1P0, F13A01, F13B, FES/FPS, LPL, TH01, TPOX and VWA were investigated in Japanese and Chinese populations. No significant deviations from Hardy-Weinberg equilibrium could be found for all loci. In the Japanese population VWA, CSF1PO, TH01, FES/FPS and TPOX were found to be useful for forensic applications and in the Chinese population, VWA, CSF1PO, TH01 and TPOX were found to be useful. Allele distributions were similar between both populations except for FES/FPS.
The catecholaminergic systems of sudden infant death syndrome victims were examined in the diencephalon and basal ganglia, in addition to the midbrain, pons, and medulla oblongata, using the immuno-histochemical method involving tyrosine hydroxylase. A significant decrease in tyrosine hydroxylase immunoreactivity was demonstrated in the basal ganglia of sudden infant death syndrome victims between 2 to 12 months of age compared with age-matched control subjects. This change in the basal ganglia may be a secondary finding induced by chronic hypoxia or repeated ischemia in sudden infant death syndrome but suggests impairment of the development of the neuronal connection from the brainstem to the upper cardiorespiratory control in sudden infant death syndrome.
Tetragalloylglucose (TgG) and digalloylhamamelose (DgH) were found to inhibit adhesion to and invasion through Matrigel of mouse Lewis lung carcinoma LL2-Lu3 cells, which are highly metastatic. TgG inhibited matrix metalloproteinases (MMPs) from the tumor cells like (-)-epigallocatechin gallate, whereas DgH did not. These results suggest that TgG and DgH inhibit tumor cell invasion by inhibiting MMPs and/or cell adhesion of the tumor cells.
A genetic polymorphism was identified in the 5'-flanking region of human CYP1A2 gene, and its effect on the transcriptional activation of the CYP1A2 gene was investigated. Nucleotide sequence analysis revealed the existence of a point mutation from guanine (wild type) to adenine (mutated type) at position -2964 in the gene. This point mutation was detected by a polymerase chain reaction-restriction fragment length polymorphism method using DdeI or BslI restriction enzyme, and was proven to be genetically inherited. Allele frequency in 116 Japanese subjects showed 0.77 and 0.23 for the wild and mutated types of allele, respectively. The point mutation caused a significant decrease of CYP1A2 activity measured by the rate of caffeine 3-demethylation in Japanese smokers (p<0.05). Gel retardation analysis showed the existence of protein bound to the polymorphic locus. These results suggest that this polymorphism is a causal factor of decreased CYP1A2 inducibility.
With a limited budget, it is difficult for our department to have a well-equipped toxicological laboratory with sufficient members of trained personnel. Alcohol levels in the body fluids and carbon monoxide levels in the blood are routinely measured using gas chromatography and UV spectrophotometer, respectively. Some drugs can be detected by the drug screening test on the market, such as Triage test. When poisoning is certain in a criminal case, I entrust another forensic laboratory with analyzing. In some non-criminal cases, a clinical laboratory of a private company may be chosen. In other cases, however, the samples are only kept in a freezer. In case of outside order, a guideline to provide an adequate chain of custody will be necessary.