The global distribution of the p.R1193Q polymorphism in the SCN5A gene.

The SCN5A (sodium channel, voltage-gated, type V, alpha subunit) gene encodes the cardiac sodium channel, a member of the voltage-gated sodium channel family. The p.R1193Q (c.

Investigation of Japanese-specific alleles: most are of Jomon lineage.

Japanese-specific alleles are expected to be powerful markers for the differentiation of the Japanese from other people. In this study, three single nucleotide polymorphisms (SNPs) in the GALNT11, H19, and PLA2G12A genes were analyzed in 2396 DNA samples from 25 global populations, and the derived alleles suggested that Japanese-specific alleles exist on autosomes. To identify new Japanese-specific alleles, candidate SNPs obtained from the HapMap database were investigated using 875 DNA samples from nine populations.

A hypervariable STR polymorphism in the CFI gene: mutation rate and no linkage disequilibrium with FGA.

A hypervariable short tandem repeat (STR) polymorphism in intron 7 of the human complement factor I gene (CFI) was investigated to estimate the mutation rate in Japanese samples and to test linkage disequilibrium (LD) with an STR in the fibrinogen alpha chain gene (FGA). The expected heterozygosity and the mutation rate of CFI were estimated to be 0.917 and 0.

Hypothalamic transcript profiling in hypothermia using SuperSAGE.

Understanding of molecular mechanisms underlying hypothermia is of primary importance in devising strategies to diagnose hypothermia. We investigated the hypothalamic transriptome in hypothermia. For transcriptomic analyses, SuperSAGE, an improved method of serial analysis of gene expression, was used.

A hypervariable STR polymorphism in the complement factor I (CFI) gene: Asian-specific alleles.

In this study, a short tandem repeat (STR) polymorphism in intron 7 of the human complement factor I (CFI) gene was studied in 637 DNA samples obtained from African, German, Thai, and Japanese populations and German and Japanese families. A total of 41 alleles were observed and classified into two groups, L and H, based on size differences. Group H, which consisted of 16 alleles, was observed only in Thai and Japanese populations at frequencies of 0.

Investigation of the methylation status around parent-of-origin detectable SNPs in imprinted genes.

Methylation of CpG dinucleotides was investigated in five regions by bisulphite treatment of gDNA, PCR and cloning/sequencing. The gDNA was prepared from peripheral blood, saliva, semen, nails and hair from the head. In gDNA from peripheral blood, three regions were investigated in 16, 23 and 24 individuals, respectively (Fig.

Wound age estimation by simultaneous detection of 9 cytokines in human dermal wounds with a multiplex bead-based immunoassay: an estimative method using outsourced examinations.

Wound age estimation for human dermal wounds was performed based on quantification of interleukin 1beta (IL 1beta), IL 5, IL 7, IL 12 p70, IL 13, IL 17, granulocyte colony-stimulating factor (G-CSF), monocyte chemoattractant protein 1 (MCP 1), and macrophage inflammatory protein 1beta (MIP 1beta). IL 5, IL 12 p 70, IL 13, and IL 17 increased from the early phase, MCP 1 exclusively in the middle phase, and IL 1beta, G-CSF, and MIP 1beta from the middle phase to the late phase. IL 7 decreased from the early phase.

Analysis of the methylation profiles in imprinted genes applicable to parental allele discrimination.

This study investigated the distribution of methylated CpGs around several SNPs in five imprinted genes, which are useful to discriminate the differentially methylated parental allele (DMPA), by bisulfite-sequencing method. The genomic DNAs from peripheral blood, saliva and relatively fresh postmortem tissues except for testis showed a differentially methylated status in each parental allele, however, DNAs from the other sources (nail, hair, semen, bloodstains and testis) revealed unexpected methylation patterns with no obvious tendency. Therefore, it would be better to have a cautiousness when the forensic evidences under various conditions are examined by the DMPA detection method.

Allele frequencies of a SNP and a 27-bp deletion that are the determinant of earwax type in the ABCC11 gene.

Allele frequencies for a SNP (rs17822931) and a 27-bp deletion that are the determinant of earwax type in the ABCC11 gene were investigated in seven Japanese, one Korean, and one German populations. The SNP will be useful as one of ancestry information markers, because it showed marked difference in frequencies between Asian and European populations.

Analysis of age-related carbonylation of human vitreous humor proteins as a tool for forensic diagnosis.

Age-related changes of protein carbonylation due to oxidative damage in human vitreous humors were analyzed. The vitreous samples were collected from 51 autopsied bodies (male: 27, 13-87 years-old, female: 24, 18-80 years-old) whose postmortem interval was less than 4 days. Total protein carbonyl content was assessed by colorimetry using 2,4-dinitrophenylhydrazine and particular carbonylated proteins were identified by immunostaining of vitreous proteins resolved by SDS-PAGE and MALDI-TOF MS with peptide mass fingerprinting.

A study on mRNA expressions of fibronectin in dermal and cerebral wound healing for wound age estimation.

We investigated mRNA expressions of fibronectin for wound age estimation during dermal and cerebral wound healing. Fibronectin mRNA expressions in the injured skin peaked at 8h post-injury. The expressions were detected in endothelial cells before and after injury, whereas they were detectable in the epidermal cells at 1-240 h, in fibroblasts at 1-72 h, in neutrophils and macrophages at 8-72 h, respectively.

Systematic classification of alleles of the glycophorin A (MN blood group) gene.

Ten alleles (five M and five N alleles) of the MN blood group system with normal antigenicity were found by sequencing the glycophorin A (GPA) gene. This study demonstrates the systematic classification of these alleles to major or minor variations of the standard alleles. GPA-specific fragments ranging from 150 to 3.

Studies on mRNA expression of tissue-type plasminogen activator in bruises for wound age estimation.

We investigated mRNA expression of tissue-type plasminogen activator (tPA) and inflammatory cell dynamics for wound age estimation of bruises in mice. Neutrophils were detected from 1 h post-injury. Up to 8 h, they accumulated in subcutaneous tissue and the lower part of the dermis, and thereafter they extended to all the layers.

A parent-of-origin detectable polymorphism in the hypermethylated region upstream of the human H19 gene.

The H19 gene is a paternally imprinted gene located on chromosome 11p15.5. In this study the H19FR haplotype polymorphism including three SNPs upstream of the H19 gene was investigated.

Studies on mRNA expression of basic fibroblast growth factor in wound healing for wound age determination.

We investigated the mRNA expression of basic fibroblast growth factor (bFGF) for wound age determination during dermal, cerebral, hepatic and renal wound healing in mice. The bFGF mRNA expression in the injured skin peaked at 1 h and was detected in epidermal cells, fibroblasts, endothelial cells and neutrophils. In the injured cerebrum the expression increased from 1 h and peaked at 48 h.