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ABSTRACT: 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.
Legal Medicine 04/2008; 10(2):113-4.
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Isao Yuasa,
Kazuo Umetsu,
Shinji Harihara, Aya Miyoshi,
Naruya Saitou,
Kyung Sook Park,
Bumbein Dashnyam,
Feng Jin,
Gérard Lucotte,
Prasanta K Chattopadhyay,
Lotte Henke,
Jürgen Henke
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ABSTRACT: Asians as well as Europeans have light skin, for which no genes to date are known to be responsible. A mutation, Ala481Thr (c.G1559A), in the oculocutaneous albinism type II (OCA2) gene has approximately 70% function of the wild type allele in melanogenesis. In this study, the distribution of the mutation was investigated in a total of 2,615 individuals in 20 populations from various areas. OCA2 481Thr prevailed almost exclusively in a northeastern part of Asia. The allele frequency was highest in Buryat (0.24) in Mongolia and showed a north-south downward geographical gradient. These findings suggest that OCA2 481Thr arose in a region of low ultraviolet radiation and thereafter spread to neighboring populations.
Journal of Human Genetics 02/2007; 52(8):690-3. · 2.57 Impact Factor
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ABSTRACT: A rapid analysis of methamphetamine and its metabolites in urine was performed by gas chromatography-mass spectrometry (GC-MS) using a short narrow-bore capillary column (NBC) (5 m x 0.1 mm I.D.). For detection, selected ion monitoring (SIM) was performed for the characteristic ions of each of the compounds. The analytes were independently detected within 2 min. Linearity was demonstrated over a range from 25-2500 ng/ml. As an application of this study, a urine sample from a drug-abuse suspect was analyzed. The analytes from the actual sample were detected with reasonable reproducibility. The results indicate the possibility of rapid analysis using a conventional GC-MS with a short NBC at a relatively low inlet pressure.
Journal of Chromatography B 11/2006; 842(2):116-20. · 2.89 Impact Factor
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ABSTRACT: Two simple methods for enantiomeric analyses of amphetamines in urine by gas chromatography-mass spectrometry (GC-MS) using
l-amphetamine-d
3 and l-methamphetamine-d
6 as internal standards are presented. One method (method A) employs extractive derivatization on a diatomaceous column with
(S)-(-)-N-(trifluoroacetyl)prolyl chloride (TPC) followed by separation with a conventional capillary column. The second method (method
B) uses headspace solid-phase microextraction (HD-SPME) after derivatization with heptafluoro-n-butyryl chloride (HFB), followed by separation with an enantiomeric capillary GC column. By the two methods, all enantiomers
were well separated in each chromatogram, and good linearity was obtained in practical concentration ranges (0.1–1.6μg/ml
for method A and 0.05–1μg/ml for method B) for every compound by selected-ion monitoring. The precision studies indicated
satisfactory coefficients of variation (<5%) for every enantiomer at 0.1μg/ml by both methods. Both methods were also evaluated
by applying them to an actual poisoning case. Both methods are recommended for use in forensic analysis, because of their
simplicity, high precision, and sufficient sensitivity.
Forensic Toxicology 06/2006; 24(1):2-7. · 3.00 Impact Factor
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ABSTRACT: A new analytical method for acetaminophen (ACAP) in serum was developed by modifying an existing method used for amphetamines,
which used extractive derivatization followed by gas chromatographymass spectrometry. After a serum sample was adjusted to
pH 12.8, it was applied onto a diatomaceous earth tube; the analyte was simultaneously extracted and heptafluorobutyrylated
during elution with a solvent containing a derivatizing reagent. Three internal standard (IS) candidates were tested: N-acetyl-d
3-paminophenol, N-acetyl-m-aminophenol, and N-acetyl-4-amino-m-cresol. All ISs gave good linear relationships (r
2 > 0.999) for ACAP in the concentration range from 1 to 200μg/ml. The detection limit for ACAP using each IS was estimated
to be 0.05–0.1μg/ml. Intraday precision was satisfactory with a coefficient of variation of less than 8.3%. The use of this
method with any of the three ISs is recommended in forensic and clinical toxicology because of its rapidity and good reproducibility.
Forensic Toxicology 01/2006; 24(2):65-69. · 3.00 Impact Factor
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ABSTRACT: To evaluate the utility of DNA polymorphism typing of urine stains in forensic investigations, the amplifiable amount of DNA was estimated in 20 urine specimens obtained from 10 male and 10 female volunteers using a DNA purification kit following dialfiltration. DNA obtained from both urine and urine stains was amplified with the AmpflSTR Profiler PCR Amplification Kit, and was analyzed by capillary electrophoresis using the Genetic Analyzer. The amount of male and female urine necessary for obtaining a complete DNA profile was 0.2 mL and 0.08 mL, respectively. When 0.2 mL of male urine were used to create urine stains, complete DNA profiles could be obtained from just some of the stains. However, when only 0.1 mL of female urine was used, complete profiles could be successfully obtained from all of the stains. DNA on bleached cotton remained amplifiable for 3-6 weeks. This method using a DNA purification kit following dialfiltration can be recommended for the genotyping of urine stains.
Journal of Forensic Sciences 08/2005; 50(4):860-4. · 1.23 Impact Factor
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ABSTRACT: We present a reliable, rapid, and economical multiplex amplified product-length polymorphism (APLP) method for analyzing the haplogroup-diagnostic mitochondrial single-nucleotide polymorphisms (mtSNPs) in East Asian populations. By examining only 36 haplogroup-specific mtSNPs in the coding region by using four 9-multiplex polymerase chain reaction (PCR) and subsequent electrophoresis, we could safely assign 1815 individuals from 8 populations of Japanese, Korean, Chinese, and Germans to 45 relevant haplogroups. This multiplex APLP analysis of coding-region mtSNPs for haplogrouping is especially useful not only for molecular phylogenetic studies but also for large-scale association studies due to its rapid and economical nature. This is the first panel of mtSNPs in the coding region to be used for haplogrouping of East Asian populations.
Electrophoresis 02/2005; 26(1):91-8. · 3.30 Impact Factor
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ABSTRACT: Our previous study suggested that hetero-oligomer formation of guinea pig liver UDP-glucuronosyltransferases (UGTs) 2B21 and 2B22 enhances UGT2B21-catalyzed morphine-6-glucuronidation. In this work, further evidence for a functional hetero-oligomer between UGT2B21 and UGT2B22 was provided by studies of the glucuronidation of chloramphenicol with dual expression in COS-7 cells. UGT2B21 expressed in COS cells was capable of glucuronidating the 3-hydroxyl group of morphine, 4-hydroxybiphenyl, borneol, testosterone, androsterone, and estriol, whereas it had some effect on chloramphenicol. On the contrary, UGT2B22 does not exhibit any significant activity toward these typical substrates tested in this study. When UGT2B21 and UGT2B22 were expressed simultaneously, the chloramphenicol glucuronidation was enhanced to 4.5-fold, whereas the activities toward other substrates were little affected except that for the 6-hydroxyl group of morphine. The protein expression level of UGT2B21 was comparable when UGT2B21 was expressed with or without UGT2B22. These results suggest that simultaneous expression of UGT2B21 and UGT2B22 enhances UGT2B21-catalyzed chloramphenicol glucuronidation. Hetero-oligomer formation of UGT2B21 and UGT2B22 may act by fine-tuning the catalytic glucuronidation of chloramphenicol.
Drug Metabolism and Disposition 11/2004; 32(10):1057-60. · 3.73 Impact Factor
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ABSTRACT: To provide insight into the polycyclization mechanism of squalene by squalene-hopene cyclase (SHC) from Alicyclobacilus acidocaldarius, some analogs of nor- and bisnorsqualenes were synthesized including the deuterium-labeled squalenes and incubated with the wild-type SHC, leading to the following inferences. (1) The deprotonation reaction for the introduction of the double bond of the hopene skeleton occurs exclusively from the Z-methyl group on the terminal double bond of squalene. (2) 3R-Oxidosqualene was folded in a boat conformation for the A-ring construction, while the 3S-form was in a chair structure. (3) The terminal two methyl groups are indispensable both for the formation of the 5-membered E-ring of the hopene skeleton and for the initiation of the polycyclization cascade, but the terminal Z-methyl group has a more crucial role for the construction of the 5-membered E-ring than the E-methyl group. (4) Some of the novel terpene skeletons, 36, 37, 39 and 40, were created from the analogs employed in this investigation.
Organic & Biomolecular Chemistry 06/2004; 2(10):1456-70. · 3.70 Impact Factor
