Aya Matsusue

Bio: Aya Matsusue is an academic researcher from Fukuoka University. The author has contributed to research in topics: Haplotype & Solid-phase microextraction. The author has an hindex of 10, co-authored 58 publications receiving 332 citations.

Population genetics of 17 Y-chromosomal STR loci in Japanese.

Abstract: Haplotypes and allele frequencies of 17 Y-chromosomal short tandem repeat (Y-STR) markers were examined using the AmpFlSTR Yfiler PCR Amplification Kit (Applied Biosystems) in a population sample of 1166 Japanese male volunteers in 6 prefectures: Miyagi, Yamagata, Osaka, Tottori, Fukuoka, and Okinawa. A total of 1058 haplotypes were observed from 1166 males, and the most common haplotype detected in 12 males had a frequency of 1.03% and the discrimination capacity was 0.907. The R ST analysis showed statistically significant differences between Okinawa and the other subpopulations.

High throughput chiral analysis of urinary amphetamines by GC-MS using a short narrow-bore capillary column

Abstract: We report very rapid and simultaneous chiral analysis of urinary amphetamine-type stimulants (ATSs), including amphetamine, methamphetamine, 3,4-methylenedioxyamphetamine, 3,4-methylenedioxymethamphetamine, and 3,4-methylenedioxyethylamphetamine, using gas chromatography-mass spectrometry (GC-MS) with a simple procedure. A urine sample containing ATSs was subjected to extractive derivatization on a diatomaceous earth tube with trifluoroacetyl-l-prolyl chloride in a single step. The concentrated sample was analyzed by GC-MS, using a short narrow-bore capillary column (10 m × 0.1 mm i.d.) in split injection mode. All chiral isomers of the ATSs targeted in this study were chromatographically distinguishable within 5 min. By our method, ATSs in urine could be measured in the concentration range of 20–1000 ng/ml with coefficients of variation of less than 9%. Our method will be very useful for chiral analysis of ATSs in routine forensic toxicology investigations, because of its simplicity and rapidity.

Announcement of Population Data Population genetics of 17 Y-chromosomal STR loci in Japanese

Abstract: Haplotypes and allele frequencies of 17 Y-chromosomal short tandem repeat (Y-STR) markers were examinedusing the AmpFlSTRYfiler PCR Amplification Kit (Applied Biosystems) in a population sample of 1166 Japanese male volunteers in 6 prefectures: Miyagi, Yamagata, Osaka, Tottori, Fukuoka, and Okinawa. A total of 1058 haplotypes were observed from 1166 males, and the most common haplotype detected in 12 males had a frequency of 1.03% and the discrimination capacity was 0.907. The RST analysis showed statistically significant differences between Okinawa and the other subpopulations. # 2008 Elsevier Ireland Ltd. All rights reserved.

The Nervous System

Abstract: Experimental Neurology By Prof Paul Glees Pp xii + 532 (Oxford: Clarendon Press; London: Oxford University Press, 1961) 75s net

Association of the adam33 gene with asthma and bronchial hyperresponsiveness

Abstract: Van Eerdewegh P, Little RD, Dupuis J, et al Nature 2002;418:426–430 To identify novel genetic polymorphisms associated with bronchial hyperresponsiveness (BHR) in asthma Four hundred sixty white affected sib-pair families from the United States and the United Kingdom with current asthma A genetic linkage analysis was performed for current asthma and BHR Case-control, transmission disequilibrium, and haplotype analyses were conducted to identify the gene(s) most commonly associated with asthma Novel genes of interest were …

An update on the genetics of atopic dermatitis: scratching the surface in 2009.

Abstract: A genetic basis for atopic dermatitis (AD) has long been recognized. Historic documents allude to family history of disease as a risk factor. Before characterization of the human genome, heritability studies combined with family-based linkage studies supported the definition of AD as a complex trait in that interactions between genes and environmental factors and the interplay between multiple genes contribute to disease manifestation. A summary of more than 100 published reports on genetic association studies through mid-2009 implicates 81 genes, in 46 of which at least 1 positive association with AD has been demonstrated. Of these, the gene encoding filaggrin (FLG) has been most consistently replicated. Most candidate gene studies to date have focused on adaptive and innate immune response genes, but there is increasing interest in skin barrier dysfunction genes. This review examines the methods that have been used to identify susceptibility genes for AD and how the underlying pathology of this disease has been used to select candidate genes. Current challenges and the potential effect of new technologies are discussed.

Atopic dermatitis in diverse racial and ethnic groups-Variations in epidemiology, genetics, clinical presentation and treatment.

Abstract: Atopic dermatitis (AD) is a chronic inflammatory skin condition that affects diverse ethnic groups with varying prevalence. Despite a predominance of studies in individuals of European ancestry, AD has been found to occur more frequently in Asian and Black individuals than Whites. Therefore, an understanding of the unique clinical features of AD in diverse ethnic groups, as well as the differences in genetic polymorphisms that influence susceptibility to AD and response to current therapies, is paramount for management of an increasingly diverse patient population. In this article, we review key nuances in the epidemiology, pathophysiology, clinical presentation and treatment of AD in non-White ethnic groups, which are largely underappreciated in the literature. We highlight the need for studies evaluating the tissue molecular and cellular phenotypes of AD in non-White patients, as well as greater inclusion of minority groups in clinical trials, to develop targeted treatments for a multi-ethnic population.

PCR inhibition in qPCR, dPCR and MPS-mechanisms and solutions.

Abstract: DNA analysis has seen an incredible development in terms of instrumentation, assays and applications over the last years. Massively parallel sequencing (MPS) and digital PCR are now broadly applied in research and diagnostics, and quantitative PCR is used for more and more practises. All these techniques are based on in vitro DNA polymerization and fluorescence measurements. A major limitation for successful analysis is the various sample-related substances that interfere with the analysis, i.e. PCR inhibitors. PCR inhibition affects library preparation in MPS analysis and skews quantification in qPCR, and some inhibitors have been found to quench the fluorescence of the applied fluorophores. Here, we provide a deeper understanding of mechanisms of specific PCR inhibitors and how these impact specific analytical techniques. This background knowledge is necessary in order to take full advantage of modern DNA analysis techniques, specifically for analysis of samples with low amounts of template and high amounts of background material. The classical solution to handle PCR inhibition is to purify or dilute DNA extracts, which leads to DNA loss. Applying inhibitor-tolerant DNA polymerases, either single enzymes or blends, provides a more straightforward and powerful solution. This review includes mechanisms of specific PCR inhibitors as well as solutions to the inhibition problem in relation to cutting-edge DNA analysis.