Search

This review comprehensively explores the molecular characterization, genetic insights, and functional implications of human DNase II, an enzyme crucial for DNA hydrolysis under acidic conditions. We discuss its purification, identification, and characterization, emphasizing the importance of highly purified samples for accurate analyses as well as for understanding the biochemical properties. The discovery and analysis of DNase II's cDNA and gene have provided crucial insights into its genetic regulation and chromosomal location. Genetic polymorphism in DNase II activity levels, characterized by distinct alleles, provides valuable information on the diversity of enzyme function among individuals. Tissue distribution studies reveal its widespread presence across human tissues, hinting at potential endocrine connections. Clinical implications of DNase II variants, including therapeutic strategies targeting the JAK1 pathway, offering insights into disease mechanisms and potential treatments. Overall, this review serves as a valuable resource for advancing our knowledge of DNase II and its impact on human health and disease., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024. Published by Elsevier B.V.)

Smartphone ownership and social media use are increasing worldwide, and children are not exempt from these trends. Past studies on this issue have mainly focused on educational campaigns to prevent the prolonged use of smartphones, social media, and video games. Recently, harm to children from engagement with bad actors through social media has become a major problem in Japan, and preventive measures need to be based on close analysis of the facts. The present study was performed descriptive epidemiology and comparison between two groups. This study investigated the number of children in Japan who fell victim to criminal offense through their use of social media, categorized by level of schooling, type of offense, and means of accessing social media over the 8-year period from 2016 to 2023. The 8-year period was divided into 2016-2019 (4 years prior to the COVID-19 pandemic) and 2020-2023 (4 years during the pandemic). Statistical analysis was conducted to compare these periods. The number of elementary school students victimized by criminal offense through social media in Japan increased significantly in 4 years during the pandemic. Furthermore, in 4 years during the pandemic, there was also a notable rise in felony-related incidents, and an increase in the number of victims accessing social media via smartphones. Schools, parents/guardians, and personnel and organizations in relevant fields need to collaborate in addressing and educating students about the proper use of smartphones and the risks of social media starting at the elementary school age., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 Elsevier B.V. All rights reserved.)

Investigations of suicide in countries of the former Soviet Union, which broke into 15 different countries in the early 1990s, require examinations of a combination of economic, social, and health factors. It is important to address these factors individually and to examine the various composite indicators for each. Moreover, it would be worthwhile to explore the potential applicability of a comprehensive worldwide index. We analyzed data from nine of the former Soviet countries for which both the annual suicide rate and the Global Competitiveness Index (GCI) were available for the years 2006-2017. We determined the precise relationships between the suicide rate and the GCI during this period in these nine countries as well as in nine countries with high suicide rates in Europe and Asia. The results indicated the following: (i) In six of the nine former Soviet countries with complete data, the suicide rate showed a relationship with the GCI. Notably, this relationship was inverse in all but one country. (ii) Among the nine European and Asian countries with high suicide rates, three exhibited a correlation between the suicide rate and the GCI. Measures to prevent suicide should be devised especially in countries of the former Soviet Union through collaboration among multiple fields and organizations, as necessary, with particular attention paid to countries with worse or worsening GCI values., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 Elsevier B.V. All rights reserved.)

Our study was designed to examine the correlation between single nucleotide polymorphism (SNP) in the endoplasmic reticulum aminopeptidase 1 (ERAP1) gene, specifically focusing on rs27434, and plural tissue weight. We conducted this investigation using autopsy samples from the Japanese population. Blood samples were collected from 178 Japanese subjects who had undergone autopsies in Shimane Prefecture. Genomic DNA was subsequently extracted from these samples. SNP (rs27434, G＞A substitution) was analyzed by polymerase chain reaction (PCR) followed by restriction fragment length polymorphism (RFLP) analysis. In the present study, rs27434 exhibited a statistically significant association with brain weight (g) in both female and male individuals. Among males, rs27434 displayed significant relationships with liver weight (g), and body surface area (m 2 ). In females, rs27434 was significantly related to the length of the appendix. Across both genders, individuals with GA and AA genotypes tended to exhibit higher levels in these respective measurements compared to those with the GG genotype. These results suggest that genetic variant of ERAP1 gene may influence the weight of the organs. To the best of our knowledge, this is the first study investigating the interaction between the association of rs27434 in the ERAP1 gene and data routinely measured at autopsy, such as tissue weight. However, conducting further investigations with larger population samples could provide more comprehensive insights to clarify this issue., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 Elsevier B.V. All rights reserved.)

Although organophosphorus agents are used worldwide as pesticides, there have been many reports of pesticide poisoning. Nerve agents are organophosphorus agents that interfere with neurotransmission and have been used as chemical weapons in wars. These agents mainly irreversibly inhibit the action of acetylcholinesterase, an enzyme that breaks down acetylcholine, a neurotransmitter, and are believed to cause acute symptoms of poisoning. However, in recent years, the presence of subacute, delayed toxicity independent of acetylcholinesterase inhibition has been reported for some organophosphorus agents. We analyzed the subacute and delayed toxicity of bis(isopropylmethyl)phosphonate (BIMP), which has the same phosphonate group as sarin. BIMP rounded out the morphology of the cells and reduced the proportion of cells in the G1 phase of the cell cycle over time. No DNA damage was observed, suggesting that BIMP may affect cell division., (Copyright © 2021. Published by Elsevier B.V.)

Each year in Japan from 1990 to 1997, approx. 21,000-24,000 individuals committed suicide. In 1998, the number of suicides increased to >30,000, and a trend of high suicide numbers then persisted for >10 years. Although Japan's annual number of suicides has recently been decreasing, it remains among the highest worldwide. Herein, we assessed the annual suicide data (numbers and rates) related to three economic and life indicators: (1) the difference between actual income and consumer spending of one average month per year in one household, (2) the annual difference between exports and imports, and (3) the annual total debt determined by statistical analyses for both sexes/males/females during the 40-year period from 1979 to 2018 in Japan. Our findings indicated that [1] total debt may be associated with both the number of suicides and the suicide rate for both sexes, for males, and for females, and [2] the difference between actual income and consumer spending may be associated with both the number of suicides and the suicide rate only in females. These findings revealed factors that are clearly suicide-related, and it is necessary to design suicide prevention strategies based on the factors. Relevant public and private entities should become aware of the involvement of both debt and the difference between income and spending in suicide trends as they plan suicide prevention measures. Further analyses of suicide data should be performed in a wide range of fields including legal medicine, toward a greater understanding of suicide risk factors., (Copyright © 2020. Published by Elsevier B.V.)

In Japan over the past few years, approximately 13,000 individuals were arrested for drug offenses each year. It is useful to know the trends in drug offenses, in order to devise the most effective countermeasures and addiction treatment programs. Herein, we have revealed the trends in drug offenses in the Tokyo Metropolitan Area. This report was researched the number of individuals arrested for drug offenses in Tokyo during the 3-year study period 2016-2018. The drugs are classified into the six categories: stimulants, narcotics, psychoactive drugs, opium, cannabis, and designated substances. We also calculated the percentages of individuals arrested for various drug offenses based on these six categories. Approximately 86% of the arrests for drug offenses in Tokyo during the 3-year period were for stimulants or cannabis. A higher percentage of individuals were arrested for stimulants, but the percentage of individuals arrested for cannabis increased each year. Given the percentage of individuals arrested for designated substances or narcotics, preventive measures for drug offenses involving stimulants and cannabis should be promptly implemented. Further campaigns to prevent drug offenses and public lectures are also needed. Public education must be provided to prevent drug offenses involving designated substances and narcotics., (Copyright © 2020 Elsevier B.V. All rights reserved.)

Recently it has been recognized that a considerable number of copy number variations (CNVs) are associated with diseases and other complex human traits. In our previous study, we developed a simple quantitative real-time PCR (Q-PCR) method for analysis of CNV copy number, which had the advantage of obviating the need for reference DNA with a known copy number. Using DNA samples obtained from 231 Japanese individuals, we applied this method for analyzing the copy number of a candidate CNV associated with body height, located in the neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase (NEDD4L) gene. In addition, the appropriateness of the results was evaluated and confirmed by quantification of amplicons with an Agilent 2100 Bioanalyzer. The NEDD4L gene encodes a member of the Nedd4 family of HECT domain E3 ubiquitin ligases. The target CNV located in the intron has been found to be significantly associated with height variation in Chinese. However, it remains unknown whether such an association exists in other populations, including Japanese. Analysis of the correlations between copy number and body height using ANOVA revealed no statistically significant correlations in Japanese., (Copyright © 2019 Elsevier B.V. All rights reserved.)

Iron is bound to mobile transferrin (TF) and ferritin in blood. TF receptors (TFRC and TFR2) regulate intracellular iron by delivering iron from TF into the cytoplasm. In this study, we examined the effects of 10 single nucleotide polymorphisms (SNPs) in each of the genes for TF and TF receptors on blood iron concentrations in Japanese subjects. Blood iron levels were determined by microwave plasma-atomic emission spectrometry and the SNPs were analyzed by polymerase chain reaction followed by restriction fragment length polymorphism analysis. Blood iron levels in males were significantly higher than those in females. Therefore, the analysis was performed only in males. Blood iron concentrations did not correlate with age and postmortem intervals in males. Among the 10 SNPs in TF, TFRC, and TFR2 genes, significant associations were observed between TF genotypes (rs12769) and male iron concentrations. Individuals with genotype GG in rs12769 had significantly higher blood iron concentrations than those with GA. Previous studies have shown the association between high tissue iron concentrations and disease, liver iron levels are higher in infants dying from sudden infant death syndrome and decreased blood iron concentrations were observed in critically ill children. Therefore, rs12769 in TF might be related to diseases and mortality risk., (Copyright © 2018 Elsevier B.V. All rights reserved.)

Zinc homeostasis in cells depends on zinc transporters, which are divided into 2 families: ZnT (SLC30A) and ZIP (SLC39A). In this study, we examined the effect of 20 single nucleotide polymorphisms (SNPs) in 10 genes encoding zinc transporters on blood zinc concentration in Japanese subjects (n = 102). Blood zinc levels were determined by microwave plasma-atomic emission spectrometry, and SNPs were analyzed by polymerase chain reaction followed by restriction fragment length polymorphism analysis. Among the 20 SNPs examined, 3 SNPs (SLC30A3 rs11126936, SLC39A8 rs233804, and SLC39A14 rs4872479) were significantly associated with blood zinc concentration. Individuals with genotype TT and TG in rs11126936 showed significantly higher blood zinc concentrations than those with GG. As for rs233804, individuals harboring the A allele had significantly higher blood zinc concentrations than those without this allele. Furthermore, the genotype TT and TG in rs4872479 had significantly higher blood zinc concentrations than those with GG. Among these three SNPs, combination of SLC30A3 rs11126936 and SLC39A8 rs233804 may strongly affect blood zinc levels. This study is the first comprehensive investigation of the effect of SNPs in genes encoding zinc transporters on blood zinc concentration. Adverse effects of zinc deficiency are reported and above 3 SNPs may be related to genetic susceptibility to zinc deficiency., (Copyright © 2017 Elsevier B.V. All rights reserved.)

Recent studies of copy number variations (CNVs) associated with physical features, such as body mass index, body height or bone length, have suggested that such CNVs could serve as markers in forensic cases involving unidentified individuals. However, the process of cataloging CNVs has been slow because of the cumbersome nature and low reliability of the procedures involved. Here we describe a simple quantitative real-time PCR (Q-PCR) method for screening of medicolegally useful CNVs, which does not require reference DNA with known copy number. The first step is to prepare a chimeric plasmid vector including one copy each of the single-copy gene-specific sequence as the internal standard, and the target CNV-specific sequence. To assess the validity of this new method, we analyzed CNVs in the LTBP1 and ETV6 gene regions, both of which are candidate CNVs associated with body height. The PCR efficiencies for the single-copy (reference) gene and the target CNV were similar, indicating that quantitation was reliable. Furthermore, simulated analysis of the LTBP1 CNV using mock samples prepared by mixing vectors in varying proportions showed that this analytical method allowed correct determination of the LTBP1 copy number. These results demonstrated that our simple method has considerable potential for screening of trait-related CNVs that would be useful for forensic casework., (Copyright © 2017 Elsevier B.V. All rights reserved.)

A 45-year-old male, an alcohol addict with asthma, was found dead in his home, after several days of continued drinking. A forensic autopsy was performed 3days after the discovery of his death in order to specify the cause of death. A longitudinal perforation penetrating all layers of the esophagus measuring 1.8cm was present on the left wall approximately 2.0cm from the gastroesophageal junction. There were 1900mL of greenish to brownish turbid liquid in the left pleural cavity and 150mL of greenish viscous liquid in the stomach. Histopathologically, an infiltration of numerous neutrophils was evident in the submucosa layer, proper muscular layer, and serous membrane of the esophagus, corresponding to the esophageal laceration. The serum C-reactive protein (CRP) concentration was determined to be 3.1mg/dL. The alcohol concentrations were determined to be 1.49mg/g in the right cardiac blood, 1.31mg/g in the left cardiac blood, and 2.48mg/g in urine. Based upon the autopsy and histopathological findings, as well as the biochemical and toxicological analyses, we concluded that the cause of death was respiratory failure by pleural effusion, resulting from spontaneous esophageal perforation. This was the first report of a spontaneous esophageal perforation eventually causing respiratory failure., (Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.)

A foreign body impacted in the esophagus is not a rare incident among adults or children. In adults, a dental prosthesis is prone to become impacted in the esophagus. The diagnostic difficulty of this often causes a delay in its removal, which can lead to serious complications, including death. This report describes the autopsy case of a man who died of prolonged asphyxiation induced by the delayed removal of an impacted denture, which was misdiagnosed on his first visit notwithstanding that a part of the denture could be seen on X-rays. Cases in which an impacted denture led to death have rarely been reported in contrast to numerous papers about recovered cases., (Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.)

We investigated a case of sudden unexpected death involving a 22-month-old male homozygotic twin infant. After both of the twins had suffered from gastroenteritis, one was found dead in his bed, but his brother survived and has since been healthy. Notably, only the deceased had been treated with an antibiotic containing pivalic acid, which may sometimes cause hypocarnitinemia. Postmortem computed tomography and medicolegal autopsy demonstrated severe liver steatosis, and subsequent genetic analysis revealed that the twin had the thermolabile variant of carnitine palmitoyl transferase 2 (CPT2). On the basis of these facts, we concluded that the cause of death had been fatty acid oxidation deficiency accelerated by an antibiotic containing pivalic acid and virus infection in this infant harboring the thermolabile genetic variant of CPT2. Although each factor alone was not fatal, their combination appeared to have resulted in sudden unexpected infant death., (Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.)

A 56-bp variable number of tandem repeat polymorphism is confirmed in intron 4 of the human deoxyribonuclease I (DNase I) gene (HumDN1). The purpose of the present study was to document global ethnic variations of allelic frequencies in HumDN1 VNTR polymorphisms. In this study, HumDN1 VNTR polymorphisms in 11 worldwide populations were examined by polymerase chain reaction and compared with those reported previously. Fifteen genotypes were identified in these 11 populations. Novel genotypes were found: 1/2 was observed in Ghanaians and mestizos, 3/6 was in Tamangs, 4/6 was in Tibetans and Nahuas, 6/6 was in Sinhalese. The African population showed the highest frequency for the HumDN1(∗)3 allele. Among Asian populations, the different genotype distribution was observed. The predominant allele in Mongolian, Korean, Japanese, and Chinese populations was HumDN1(∗)3, followed by HumDN1(∗)4, and then HumDN1(∗)5. In Chinese from South China, Tamangs, and Sinhalese, HumDN1(∗)4 and HumDN1(∗)5 were predominant. The allele frequency for HumDN1(∗)4 was high in three Mexican populations, but a significant difference was observed between Nahuas and Huicoles. Germans and Turks showed a similar distribution. This study is the first to show the existence of a certain genetic heterogeneity in the worldwide distribution of HumDN1 VNTR polymorphism., (Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.)

The haptoglobin (HP) gene deletion allele (HP(del)) is responsible for anhaptoglobinemia and a genetic risk factor for anaphylaxis reaction after transfusion due to production of the anti-HP antibody. The distribution of this allele has been explored by several groups including ours. Here, we studied the frequency of HP(del) in addition to the distribution of common HP genotypes in 293 Vietnamese. The HP(del) was encountered with the frequency of 0.020. The present result suggested that this deletion allele is restricted to East and Southeast Asians. Thus, this allele seems to be a potential ancestry informative marker for these populations., (Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.)

Previous studies of four populations revealed that a hypervariable short tandem repeat (iSTR) in intron 7 of the human complement factor I (CFI) gene on chromosome 4q was unique, with 17 possible East Asian-specific group H alleles observed at relatively high frequencies. To develop a deeper anthropological and forensic understanding of iSTR, 1161 additional individuals from 11 Asian populations were investigated. Group H alleles of iSTR and c.1217A allele of a SNP in exon 11 of the CFI gene were associated with each other and were almost entirely confined to East Asian populations. Han Chinese in Changsha, southern China, showed the highest frequency for East Asian-specific group H alleles (0.201) among 15 populations. Group H alleles were observed to decrease gradually from south to north in 11 East Asian populations. This expansion of group H alleles provides evidence that southern China and Southeast Asia are a hotspot of Asian diversity and a genetic reservoir of Asians after they entered East Asia. The expected heterozygosity values of iSTR ranged from 0.927 in Thais to 0.874 in Oroqens, higher than those of an STR in the fibrinogen alpha chain (FGA) gene on chromosome 4q. Thus, iSTR is a useful marker for anthropological and forensic genetics., (Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.)

We have focused on the 14 SNPs including all the non-synonymous and autoimmunity-related ones in the DNase II gene (DNASE2). The distribution of each allele and haplotype in these SNPs was examined in eight Asian, three African, three Mexican and two Caucasian populations using the newly developed PCR-RFLP methods. Eight SNPs among nine non-synonymous ones were monomorphic, indicating that a specific allele generating the intact activity-harboring DNase II in these SNPs is well conserved in worldwide populations. On the other hand, five other SNPs (-1951G>A, -1066G>C, -390A>C, +2630T>C, and +6235G>C) related to autoimmunity exhibited polymorphism common in worldwide populations, and especially their distributions were ethnic-dependent in the same manner as those of haplotypes. Furthermore, a strong linkage between SNPs -1951G>A and -1066G>C was confirmed in most populations. This study was the first to report any worldwide population analysis regarding all the non-synonymous and autoimmunity-related SNPs in the DNASE2, providing genetic information on the DNASE2 as a genetic marker for personal identification and/or genetic factor for susceptibility to autoimmunity., (Published by Elsevier Ireland Ltd.)

Adult height is a highly heritable trait involving multiple genes. Recent genome-wide association studies have identified that SNP rs12338076 in the LHX3-QSOX2 locus, and rs1457595 and rs17032362 in the IGF1 locus are associated with human height in the Japanese population (Okada et al. (2010)). We performed a replication study to examine the associations between these three SNPs and adult height in the Japanese population based on autopsy cases. However, it was not possible to confirm that all these SNPs influenced adult height in the study population. We first conducted a wide-ranging survey of these three SNPs in the above genes using nine different populations including Asians, Africans and Caucasians, and demonstrated that the genotypes of rs12338076 and rs17032362 were distributed in an ethnicity-dependent manner; even within Asian populations, the genotype distributions of the SNPs differed widely. Although there are differences in height distribution between different populations, possibly due to genetic factors and/or gene-environmental interactions, the contradictory results of the association study and ethnic differences in genotype distribution allow us to assume that these height-related SNPs in the genes may contribute to adult height to a slight extent, at least in the Japanese population. It is anticipated that the present information will be useful for developing a reliable tool for personal identification through elucidation of the genetic basis of human height., (Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.)

ABO grouping of biological specimens is informative for identifying victims and narrowing down suspects. In Japan and elsewhere, ABO grouping as well as DNA profiling plays an essential role in crime investigations. In the present study, we developed a new method for ABO genotyping using allele-specific primers and real-time PCR. The method allows for the detection of three single nucleotide polymorphisms (SNPs) at nucleotide positions 261, 796, and 803 in the ABO gene and the determination of six major ABO genotypes. This method required less than 2 h for accurate ABO genotyping using 2.0 ng of DNA. This method could be applicable for rapid and simple screening of forensic samples., (Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.)

Two mutants, OCA2∗481Thr (c.1441G>A, p.Ala481Thr) and OCA2∗615Arg (c.1844A>G, p.His615Arg), in the OCA2 (oculocutaneous albinism type II) gene are associated with hypopigmentation in East Asians. Here, these two alleles were studied to assess the frequencies in five different populations. In addition, the allele frequency of OCA2∗615Arg was investigated in seven populations. Among a total of 24 global populations investigated, Oroqens in Heihe showed the highest frequency for OCA2∗481Thr (0.519), and among 26 populations, Han Chinese in Changsha showed the highest frequency for OCA2∗615Arg (0.673). This study confirmed that these two East Asian-specific alleles are characteristic of northern and central-southern East Asian populations., (2011 Elsevier Ireland Ltd. All rights reserved.)

Identification of the population origin of an individual is very useful for crime investigators who need to narrow down a suspect based on specimens left at a crime scene. Single nucleotide polymorphisms of the Y chromosome (Y-SNPs) are a class of markers of interest to forensic investigators because many of the markers indicate regional specificity, thus providing useful information about the geographic origin of a subject. We selected seven informative Y-SNPs (M168, M130, JST021355, M96, P126, P196, and P234) to differentiate the three major population groups (East Asian, European, and African) and used them to develop forensic application. SNP genotyping was carried out by multiplex PCR reaction and multiplex single base extension (MSBE) reaction followed by capillary electrophoresis of extension products. This method can be used to assign a haplogroup from both degraded male DNA samples and DNA samples containing a mixture of female and male DNA through PCR primers that generate small amplicons (less than about 150 bp) and are highly specific for targets on the Y chromosome. The allelic state of each marker was definitively determined from a total of 791 males from the three major population groups. As expected, samples from the three major population groups showed Y-haplogroups common in the region of provenance: Y haplogroups C, D, and O for East Asians; IJ and R1 for Europeans; and AB and E for Africans., (Published by Elsevier Ireland Ltd.)

Y-chromosomal 28 short tandem repeat (STR) loci were investigated in unrelated healthy individuals of the Ovambo population from Namibia (n=54). Sixteen Y-chromosome short tandem repeat (Y-STR) polymorphic loci (DYS456, DYS389I, DYS390, DYS389II, DYS458, DYS19, DYS385, DYS393, DYS391, DYS439, DYS635, DYS392, GATAH4, DYS437, DYS438, and DYS448) were analyzed using AmpFISTR Yfiler Polymerase Chain Reaction (PCR) Amplification Kit. DYS441-445 and DYS446, DYS447, DYS449, DYS450, DYS459a/b, DYS463 and DYS464a/b/c/d were investigated using a multiplex PCR system. Fifty-one haplotypes were identified in 54 Ovambos. The STR diversity values for Y-STRs loci ranged from 0.036 (DYS392) to 0.900 (DYS 385).

Cytochrome P450 (CYP) 1A1, glutathione S-transferase (GST) M1, and GSTT1 gene polymorphisms have been shown to be associated with several diseases. In this study, CYP1A1 MspI, GSTM1 and GSTT1 gene polymorphisms were investigated in 134 Ovambo and 207 Mongolians, and the results were compared with those from previous studies. Using polymerase chain reaction/restriction fragment length polymorphism (PCR-RFLP) the frequency of CYP1A1 MspI mutation was determined. The multiplex PCR was used to determine the GSTM1 and GSTT1 polymorphism. The frequencies of wild-type, heterozygous variant and homozygous variant of the CYP1A1 MspI genotypes were 72.4%, 25.4% and 2.2%, and 22.7%, 55.6% and 21.7% in the Ovambos and Mongolians, respectively. The frequencies of GSTM1 (null) and GSTT1 (null) genotypes were 11.2% and 35.8%, and 46.4% and 25.6% in the Ovambos and Mongolians, respectively. The CYP1A1 MspI and GSTT1 (null) genotype distribution of the Ovambos was similar to that of African-Americans and some Caucasians. In contrast, the GSTM1 (null) genotype distribution was different from that of all other populations. Among Mongolians, the CYP1A1 MspI polymorphism showed the highest mutation frequencies, GSTM1 (null) was similar to that of East Asians, and GSTT1 (null) was different from that of almost all the Asians examined.

We recently reported abrupt elevation of serum deoxyribonuclease I (DNase I) activity in the early stage of acute myocardial infarction (AMI). The aim of this study was to evaluate whether serum DNase I could be used as a marker for detection of myocardial ischemia that accompanies AMI. In consecutive patients with stable angina pectoris undergoing elective percutaneous coronary intervention (PCI) or the vasospastic angina pectoris (VSAP) provocation test, together with patients undergoing coronary angiography (CAG), serum samples were tested for DNase I activity. Serum DNase I activity was found to rise significantly within 3h after PCI, and also after the provocation test in the VSAP-positive group. In all of the CAG and VSAP-negative patients, DNase I activity levels remained unchanged. Transient myocardial ischemia resulting from PCI or VSAP induces a significant elevation of serum DNase I activity, indicating that serum DNase I may be applicable as a novel and specific marker for detection of myocardial ischemia. Similarly, it is suggested that serum DNase I could be potentially useful as a biochemical marker for diagnosis of death due to ischemic heart disease.

Allele frequencies of 15 short tandem repeat (STR) loci D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818, and FGA were determined in unrelated individuals in the Ovambo population from Namibia (n=195). Amplification was performed using AmpFlSTR Identifiler Kit. For each locus 6-20 alleles were observed. For all 15 loci, the combined matching probability is 3.3x10(16) and the power of exclusion is 99.99986%. AmpFlSTR Identifiler detection system is a valuable tool for individual identification in Ovambo population.

Deoxyribonuclease I (DNase I) plays important roles for DNA fragmentation and degradation during programmed cell death. The single nucleotide polymorphism (SNP) at DNase I, designated as DNASE1, in exon 8 (A2317G) is considered to be one of the susceptibility genes for gastric and colorectal carcinoma and myocardial infarction. Recent research has shown the presence of a novel 56-bp variable number of tandem repeat (VNTR) polymorphism in intron 4 at DNase I, designated as HumDN1. In the present study, DNASE1 and HumDN1polymorphisms and serum DNase I activities in each different genotype were investigated in 137 Japanese populations. The allele frequencies of A and G in DNASE1 were 0.5839 and 0.4161, respectively. The allelic frequencies of alleles 2, 3, 4, and 5 in HumDN1 were 0.0219, 0.5803, 0.2226, and 0.1752, respectively. In the DNASE1 polymorphism, the activities of genotypes GG and AG were significantly higher than that of AA. As for the HumDN1 polymorphism, the activity of genotype 55 was significantly higher than the activities of 33 and 34. In addition, a significant difference was observed between haplotypes AA/33 and GG/55. The analysis of the correlation between genotype and DNase I activity may be potentially useful for clinical purposes.

This study confirms the presence of a novel variable number of tandem repeats polymorphism, designated as HumDN1, in intron 4 of the human deoxyribonuclease I (DNase I) gene. Genotyping was performed without difficulty by PCR-amplification and separation by agarose gel electrophoresis in 423 Japanese, originating from four geographically diverse areas in Japan, and 89 Germans. The HumDN1 allele variability was due to different numbers of 56-bp repeat sequences, and five different alleles were distinguished with apparent size between 364 and 588 bp. Although there was a general uniformity for the polymorphism in the Japanese population, significant differences in genotype distribution were found between the Japanese and German populations. Furthermore, linkage disequilibrium between the HumDN1 and DNase I protein polymorphisms was revealed.

We devised a procedure that combines a simple extraction method, isoelectric focusing and activity staining using the dried agarose film overlay method, for deoxyribonuclease I (DNase I) typing from aged urine stains. DNase I types were determined without difficulty from urine stains kept at room temperature for 3 months or more in all of the samples tested. The amounts of urine stains required for typing after 3 months of storage were estimated to be equivalent to 60-120 microl of liquid urine. Therefore, considering that useful PCR-based DNA typing has not yet been developed for urine stains, DNase I polymorphism could be considered the first biochemical marker found to be well suited for individualization from small aged urine stains.

Murine monoclonal anti-human deoxyribonuclease II (DNase II) antibodies were obtained from BALB/c mice immunized with human DNase II purified from human liver. Both single radial enzyme diffusion and DNA-cast polyacrylamide gel electrophoresis were very useful screening methods for obtaining the DNase II-specific antibodies. All of the antibodies showed specific inhibition of human DNase II enzyme activity and specific immunostaining. Insertion of the immunoaffinity step in our purification procedure made the purification of human DNase II easier, faster and more effective than the conventional procedure.