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In the present study, we used micro‐Raman spectroscopy with high‐resolution analysis to discriminate between bloodstains from infants and bloodstains from adults. Raman peaks were detected at 674, 754, 976, 1002, 1105, 1127, 1176, 1248, 1340, 1368, 1390, 1560, and 1611 cm−1; these peaks were derived from hemoglobin, albumin, and glucose. However, a peak was obtained at 1105 cm−1, which was assigned to histidine; this peak was observed only for bloodstains from adults. Human adult hemoglobin (HbA) is composed of an α2β2 tetramer structure, whereas human fetal hemoglobin (HbF) is composed of an α2γ2. Therefore, the lack of a Raman peak at 1105 cm−1 in bloodstains from infants indicates the possibility of two histidine substitutions (His116Ile and His143Ser) in the γ chain of HbF. This study discriminates between bloodstains from infants and bloodstains from adults using micro‐Raman spectroscopy, with beneficial implications in forensic science. [ABSTRACT FROM AUTHOR]

The annual number of suicides in Japan totaled around 23,000 in 1997 and abruptly increased to around 31,000 in 1998. This figure has remained high since then. This abrupt increase in the number of suicides was primarily due to an increase in suicides occasioned by economic concerns. The association between various economic factors and suicide must be studied in detail and over the long term in order to ascertain the association between economic concerns and suicide. This study examined the relative poverty rate and the suicide rate in Japan over 30 years and discussed the association between those two rates. The results suggest that the relative poverty rate may be associated with the suicide rate for both sexes. This association is true for men in particular. The organizations and professionals involved in implementing suicide prevention measures should be cognizant of the current findings and consider formulating additional specific measures. [ABSTRACT FROM AUTHOR]

Purpose X-ray repair cross-complementing group 1 (XRCC1) repairs single-strand breaks in DNA. Several reports have shown the association of single nucleotide polymorphisms (SNPs) ( Arg194Trp, Pro206Pro, Arg280His, Arg399Gln) in XRCC1 to diseases. Limited population data are available regarding SNPs in XRCC1, especially in African populations. In this study, genotype distributions of four SNPs in worldwide populations were examined and compared with those reported previously. Materials and Methods Four SNPs ( Arg194Trp, Pro206Pro, Arg280His, Arg399Gln) in XRCC1 from genomic DNA samples of 10 populations were evaluated by using polymerase chain reaction followed by restriction fragment length polymorphism analysis. Results The frequency of the minor allele corresponding to the Trp allele of XRCC1Arg194Trp was higher in Asian populations than in African and Caucasian populations. As for XRCC1Pro206Pro, Africans showed higher minor allele frequencies than did Asian populations, except for Tamils and Sinhalese. XRCC1 Arg280His frequencies were similar among Africans and Caucasians but differed among Asian populations. Similarly, lower mutant XRCC1 Arg399Gln frequencies were observed in Africans. Conclusions This study is the first to show the existence of a certain genetic heterogeneity in the worldwide distribution of four SNPs in XRCC1. [ABSTRACT FROM AUTHOR]

The objectives of this study were to evaluate all the non-synonymous single nucleotide polymorphisms ( SNPs) in the DNase I and DNase I-like 3 (1L3) genes potentially implicated in autoimmune diseases as a functional SNP in terms of alteration of the activity levels. We examined the genotype distributions of the 32 and 20 non-synonymous SNPs in DNASE1 and DNASE1L3, respectively, in three ethnic groups, and the effect of these SNPs on the DNase activities. Among a total of 44 and 25 SNPs including those characterized in our previous studies [Yasuda et al., Int J Biochem Cell Biol 42 (2010) 1216-1225; Ueki et al. Electrophoresis 32 (2012) 1465-1472], only four and one, respectively, exhibited genetic heterozygosity in one or all of the ethnic groups examined. On the basis of alterations in the activity levels resulting from the corresponding amino acid substitutions, 11 activity-abolishing and 11 activity-reducing SNPs in DNASE1 and two activity-abolishing and five activity-reducing SNPs in DNASE1L3 were confirmed as a functional SNP. Phylogenetic analysis showed that all of the amino acid residues in activity-abolishing SNPs were completely or well conserved in animal DNase I and 1L3 proteins. Although almost all non-synonymous SNPs in both genes that affected the catalytic activity showed extremely low genetic heterogeneity, it seems plausible that a minor allele of 13 activity-abolishing SNPs producing a loss-of-function variant in both the DNase genes would be a direct genetic risk factor for autoimmune diseases. These findings may have clinical implications in relation to the prevalence of autoimmune diseases. [ABSTRACT FROM AUTHOR]

BACKGROUND: The human FUT2 gene encodes a secretor-type α(1,2)fucosyltransferase, and many population-specific polymorphisms have been reported in the coding region. STUDY DESIGN AND METHODS: Direct sequencing, real-time polymerase chain reaction, and high-resolution melt (HRM) analysis were done to detect single-nucleotide polymorphism (SNPs) and copy number variations (CNVs) in a Vietnamese population. The impacts of two novel mutations on the encoded enzyme were examined by a transient expression study. RESULTS: The major nonfunctional allele in the 294 Vietnamese was se357,385, whereas no CNV was detected. Two novel SNPs, 818C>A (Thr273Asn) and 853G>A (Ala285Thr), distributed at low frequency, were shown to remarkably affect the enzyme activity. CONCLUSION: The allelic polymorphism of FUT2 in Vietnamese is similar to that of other East and Southeast Asian populations. This result may reflect the history and gene flow of this population. In addition, HRM analysis seems to be a simple and effective method for screening rare SNPs of FUT2 in a large number of samples. [Correction statement added after online publication 21-Dec-2011: Thr273Ala has been updated to Thr273Asn throughout.] [ABSTRACT FROM AUTHOR]

Human eye color is a polymorphic phenotype influenced by multiple genes. It has recently been reported that three single nucleotide polymorphisms (SNPs) within intron 1 of the OCA2 gene (rs7495174, rs4778241, rs4778138) and two SNPs in intron 86 (rs12913832) and the 3′ UTR region (rs1129038) of the HERC2 gene-located in the upstream of the OCA2 locus -have a high statistical association with human eye color. The present study is the first to examine in detail the genotype and haplotype frequencies for these five SNPs in an Asian (Japanese) population ( n = 523) comprising solely brown-eyed individuals. Comparison of the genotype and haplotype distributions in Japanese with those in African and European subjects revealed significant differences between Japanese and other populations. Analysis of haplotypes consisting of four SNPs at the HERC2-OCA2 locus (rs12913832/rs7495174/rs4778241/rs4778138) showed that the most frequent haplotype in the Japanese population is A-GAG (0.568), while the frequency of this haplotype is rather low in the European population, even in the brown-eyed group (0.167). The haplotype distribution in the Japanese population was significantly different from that in the brown-eyed European group ( F ST = 0.18915). Copyright © 2009 John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

1. Glutathione S-transferase class omega (GSTO) 1 and 2 are members of the glutathione- S-transferase family, which uses glutathione in the process of the biotransformation of drugs, xenobiotics and oxidative stress. Associations with the age-at-onset of Alzheimer's and Parkinson's diseases have been shown in the genetic polymorphism of GSTO1 and GSTO2. 2. In the present study, the frequencies of GSTO1*A140D and GSTO2*N142D in Ovambos ( n = 163), Turks ( n = 194), Mongolians ( n = 243) and Japanese ( n = 102) were investigated and compared with findings from other studies. Detection of these single nucleotide polymorphisms was performed by polymerase chain reaction–restriction fragment length polymorphism analysis. 3. The allele frequencies of these polymorphisms in Ovambos, Turks, Mongolians and Japanese were 0.040, 0.085, 0.128 and 0.108, respectively, for GSTO1*A140D and 0.583, 0.219, 0.173 and 0.216, respectively, for GSTO2*N142D. Ovambos showed the lowest allele frequency of GSTO1*A140D. Conversely, Africans, including Ovambos, showed higher allele frequencies of GSTO2*N142D than Caucasians and Asians. 4. The existence of a certain genetic heterogeneity in the worldwide distribution of these two polymorphisms is revealed in the present study. [ABSTRACT FROM AUTHOR]

Human cytochrome P450 2J2 (CYP2J2) is abundant in cardiovascular tissue and active in the metabolism of arachidonic acid to eicosanoids that have potent vasodilatory properties. Variability of the CYP2J2 gene is highly constrained except for its proximal promoter: there is a relatively common and functionally relevant single nucleotide polymorphism, indicated by −50G > T polymorphism ( CYP2J2*7). Although genetic variation is known among ethnic groups, data for allele frequency are limited to a few Caucasian, Asian, and one African populations. In the present study, genotype distribution of CYP2J2*7 polymorphisms was investigated using polymerase chain reaction and restriction fragment length polymorphism assay in Japanese ( n = 338), Mongolian ( n = 118), and Ovambo ( n = 186) populations and the findings compared with other populations. The mutant ( CYP2J2*7) frequencies in the Japanese, Mongolians, and Ovambos were 0.0621, 0.0339, and 0.0672, respectively. Except for the Taiwanese, a general uniformity in the polymorphism in the Asian populations was observed. The mutation frequency of Ovambos was relatively lower than that of the African-American population. This study is the first to investigate the distribution of the CYP2J2*7 gene polymorphisms in Japanese, Mongolians, and Ovambos. These data will be informative and facilitate genetic association studies, in Asian and African populations for CYP2J2-related diseases such as cardiovascular disorders. Copyright © 2008 John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

Angiogenin and ribonuclease 2 (RNase 2) are members of the human RNase superfamily. Although three potential single nucleotide polymorphisms (SNPs) in these genes, which could give rise to an amino acid substitution in the protein, have been identified, relevant population data are not available, and accordingly they have not been applied to clinical-genetic analysis. For this purpose, a novel genotyping method for each SNP using the mismatched PCR-restriction fragment length polymorphism technique has been developed. Using this method, the genotype distribution of each SNP was investigated in six populations: Japanese ( n = 167), Korean ( n = 90), Mongolian ( n = 92), Ovambos ( n = 86), Turkish ( n = 87), and German ( n = 70). In all the populations, only one genotype was found in each SNP. Irrespective of differences in ethnic groups, the angiogenin and RNase 2 genes appear to exhibit markedly less genetic heterogeneity with regard to these SNPs. Copyright © 2008 John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

BACKGROUND: Many single-nucleotide polymorphisms (SNPs) have been identified in the coding region of the FUT2 locus, which encodes secretor type α(1,2)fucosyltransferase. These SNPs are highly population-specific. STUDY DESIGN AND METHODS: The 1121-bp polymerase chain reaction (PCR) product containing the whole FUT2 coding region in three human populations, Ovambos (n = 74), Turks (n = 70), and Mongolians (n = 118), was sequenced. The haplotypes consisting of novel SNPs were determined by sequencing cloned inserts, and the haplotypes consisting of already reported SNPs were inferred by free computer software (PHASE). The functional significance of novel SNPs by transient expression study was also examined. RESULTS: Twenty-four SNPs were found including seven novel SNPs (i.e., 4G > A, 244G > A, 442C > A, 489G > A, 569G > A, 665G > A, and 950C > T). A transient expression study suggested that the 244G > A, 569G > A, and 950C > T SNPs are enzyme-inactivating mutations. CONCLUSION: This study identified 24 SNPs in the FUT2 gene, of which 7 were novel. The frequencies of alleles and genotypes were determined in Ovambos, Turks, and Mongolians. The allelic composition of each population was similar to those of geographically closer populations. [ABSTRACT FROM AUTHOR]

BACKGROUND: Many single-nucleotide polymorphisms have been identified in the coding region of the FUT2 locus, which encodes secretor type α(1,2)fucosyltransferase. In addition, three recombination alleles have been reported. Of these recombination alleles, a fusion gene generated by an unequal crossing over between Sec1, a pseudogene that locates 23 kb upstream to and has high sequence homology with FUT2 and FUT2, was identified as a Japanese-specific nonsecretor allele ( se fus). STUDY DESIGN AND METHODS: During the screening of the se fus in Mongolians (n = 118), a hybrid allele of Sec1-FUT2-Sec1 was found. RESULTS: The DNA sequence suggested that the Sec1-FUT2-Sec1 allele contains a 275-bp sequence (between positions 259 and 533) that is identical to the FUT2 sequence including a 54-bp FUT2-specific region (between positions 417 and 470) and that might have been generated by an interlocus gene conversion. CONCLUSION: Because the recombination region of se fus and the upstream recombination region of Sec1-FUT2-Sec1 are almost identical, this sequence stretch is likely to be the breakpoint for different kinds of recombinations that occur in this family of genes. [ABSTRACT FROM AUTHOR]

Cytochrome P450 1A2 ( CYP1A2) plays an important role in metabolizing drugs and xenobiotics, and is a possible participant in the development of several human diseases. Recent studies have shown that genetic polymorphism of −163 C > A single nucleotide mutation of CYP1A2 increases the risk of myocardial infarction and modulates CYP1A2 activity. In this study, we investigated the frequency of the −163 C > A mutation in Ovambos ( n = 177), Koreans ( n = 250) and Mongolians ( n = 153) and compared our results with other studies. Detection of this single nucleotide polymorphism was by polymerase chain reaction-restriction fragment length polymorphism analysis (PCR-RFLP). The frequencies of mutation ( CYP1A2*−163A) in the Ovambos, Koreans and Mongolians were 0.46, 0.32 and 0.21, respectively. Ovambos showed a relatively higher frequency of mutation, similar to that of Tanzanians, while the Mongolians showed the lowest frequency of all study groups, including those from previous studies. This study is the first to investigate the distribution of the CYP1A2 (−163 C > A single nucleotide polymorphism) mutant allele in Ovambo, Korean and Mongolian populations. Copyright © 2006 John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

The measurement of blood carboxyhemoglobin ( CO-Hb) is important to determine the cause of death. The AVOXimeter 4000 ( AVOX), a portable CO-oximeter, has the advantages of a low purchase price and operating cost, ease of operation, and rapid results. Little information is available on the usefulness of AVOX in the forensic sample, and the previous study investigated only six samples. Therefore, in this study, we confirmed the usefulness of the AVOX through a comparison of its re sults with data previously obtained using the double wavelength spectrophotometric method in autopsies. Regression analysis was performed between CO-Hb levels measured by the AVOX and those measured by the conventional double wavelength spectrophotometric method in postmortem blood samples: a significant correlation was observed. This study suggests the usefulness of the AVOX to analyze postmortem blood, and the AVOX is suitable for routine forensic analysis and can be applied at the crime scene. [ABSTRACT FROM AUTHOR]

The single nucleotide polymorphism (SNP) at deoxyribonuclease I (DNase I), designated as DNASE1 (NCBI SNP number; 1053874), in exon 8 (A2317G) has been shown to be associated with liver disease, colorectal carcinoma, and gastric carcinoma in Japanese patients. In this study, we investigated the frequency of the DNASE1 polymorphism in Ghanaian ( n = 96) and Xhosa ( n = 78) populations and compared the results with those of other studies. The single nucleotide polymorphism was detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. The frequencies of DNASE1*1 in the Ghanaian and Xhosa populations were 0.90 and 0.88, respectively. These two African populations had an extremely high frequency of DNASE1*1, similar to that of the Ovambos living in Namibia. Caucasians and Asians had a lower frequency of DNASE1*1 than the African groups. This study is the first to reveal an extremely high frequency of DNASE1*1 among African populations. Copyright © 2007 John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

A letter to the editor about the frequency of the haptoglobin-gene deletion in Asian populations is presented.

Flexible InGaSb thin films are considered useful for reducing the power generation cost of thermophotovoltaic (TPV) systems. The growth and evaluation of flexible InGaSb thin films on polyimide (PI) films by multi‐cathode RF magnetron sputtering are reported here. The obtained InGaSb/PI thin film is a polycrystalline and nearly stoichiometric (In0.24Ga0.27Sb0.49) thin film. The conduction type is n‐type, and the electron mobility is 108 cm2 V−1 s−1. The analysis of its electrical properties shows that In acts as a surfactant during the crystal growth. Two types of donors (Ini or SbIn and defects related to the dangling bonds in the grain boundary) are observed in the InGaSb/PI thin film, with no residual acceptor. Furthermore, it is important to reduce the environmental release of TPV films by improving their aqueous stability and thereby expand the application range of large‐area TPV systems. The effectiveness of a surface coating material, namely (3‐mercaptopropyl) trimethoxysilane (MPT), is clarified by comparing it with the efficacy of other coating materials. The MPT coating covers the entire InGaSb/PI thin film and helps reduce its toxicity without affecting its properties. These findings lead to the conclusion that the flexible MPT‐coated InGaSb/PI thin film has potential applications in TPV cells. Flexible InGaSb/PI thin films are grown by multi‐cathode RF magnetron sputtering. The analysis of their electrical properties shows that In acts as a surfactant during the crystal growth. Furthermore, the cell viability of the InGaSb/PI thin film surface coated using (3‐mercaptopropyl) trimethoxysilane (MPT) is found to be higher than those of bare and peptide‐coated InGaSb/PI thin films. [ABSTRACT FROM AUTHOR]