High Throughput Detection of Drug-Metabolizing Enzyme Polymorphisms by Allele-Specific Fluorogenic 5' Nuclease Chain Reaction Assay.

Hiratsuka, Masahiro; Agatsuma, Yukio; Omori, Fumiko; Narahara, Kaori; Inoue, Tomoko; Kishikawa, Yukinaga; Mizugaki, Michinao

doi:10.1248/bpb.23.1131

Cited by 42 publications

(25 citation statements)

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“…Previously, PCR with restriction fragment polymorphism analysis (26 ), SSCP analysis (5 ), DHPLC (28 ), horizontal conformation-sensitive gel electrophoresis (6 ), TaqMan technology (44 ), and LightCycler with hybridization probes (29 ) have been described for genotyping of TPMT. However, only the LightCycler assay described by Schü tz et al (29 ) account for most (eight) of the known TPMT SNPs that lead to nonfunctional alleles.…”

Section: Methodsmentioning

confidence: 99%

Pyrosequencing of TPMT Alleles in a General Swedish Population and in Patients with Inflammatory Bowel Disease

Haglund

Lindqvist²,

Almér

et al. 2004

Clinical Chemistry

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Background: Interindividual differences in therapeutic efficacy in patients treated with thiopurines might be explained by the presence of thiopurine S-methyltransferase (TPMT) alleles that encode for reduced TPMT enzymatic activity. It is therefore of value to know an individual's inherent capacity to express TPMT. Method: We developed a pyrosequencing method to detect 10 single-nucleotide polymorphisms (SNPs) in TPMT. A Swedish population (n ‫؍‬ 800) was examined for TPMT*3A, TPMT*3B, TPMT*3C, and TPMT*2. Patients with inflammatory bowel disease (n ‫؍‬ 24) and healthy volunteers (n ‫؍‬ 6), selected on the basis of TPMT enzymatic activity, were investigated for all 10 SNPs to determine the relationship between TPMT genotype and phenotype. Results: In the general population we identified the following genotypes with nonfunctional alleles:

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Section: Methodsmentioning

confidence: 99%

Pyrosequencing of TPMT Alleles in a General Swedish Population and in Patients with Inflammatory Bowel Disease

Haglund

Lindqvist²,

Almér

et al. 2004

Clinical Chemistry

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“…CYP3A5*3 genotyping was performed by allele-specific real-time polymerase chain reaction using the method of Hiratsuka et al 25,26 with slight modifications. 27 …”

Section: Genotypingmentioning

confidence: 99%

Association Between the CYP3A5 Genotype and Blood Pressure

Pinto

Hall

et al. 2005

Hypertension

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Abstract-We tested the hypothesis that the presence of a CYP3A5*1 allele is associated with increases in blood pressure in 2 studies of subjects with a total of 683 participants. The first study involving 271 subjects was part of a longitudinal study conducted at Indiana University Medical Center that consisted of 2 phases. The first phase studied the relationship of salt sensitivity with blood pressure, whereas the second phase, conducted Ϸ26 years later, studied the relationship between blood pressure, carbohydrate intolerance, and vascular compliance in the same subjects. The second study was a cross-sectional evaluation of 412 normotensive and hypertensive subjects conducted at the University of California San Diego. The second study (Mantel-Haenszel 2 test; Pϭ0.05) showed that a greater proportion of black participants with poor blood pressure control had CYP3A5*1/*1 genotype. Evaluation of the untreated blood pressure from phase 1 of the first study showed that the blacks with CYP3A5*3/*3 (146Ϯ35 mm Hg) had a higher systolic blood pressure than those with the *1/*3 (119Ϯ14.1 mm Hg; Pϭ0.0006) and *1/*1 (125Ϯ17.4 mm Hg; Pϭ0.009) genotypes. For blacks in study 2, the CYP3A5*1 allele was more common in hypertensives (Fisher exact test; Pϭ0.025) than normotensives. In whites there was no association between CYP3A5 genotype and blood pressure in either study. We conclude that although untreated blood pressure may be higher in blacks with the CYP3A5*3/*3 genotype, the CYP3A5*1 allele may be associated with hypertension that is more refractory to treatment in this ethnic group.

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“…Various assay techniques have been developed to investigate polymorphisms, including PCR-restriction fragment length polymorphism analysis, AS-PCR, multiplex PCR, single-strand confirmation polymorphism analysis, oligonucleotide ligation assay, and real-time PCR (3,5,6,10,15,16,18). AS-PCR is an excellent genotyping method, although it frequently requires extensive optimization and its background amplification is often high.…”

Section: Discussionmentioning

confidence: 99%

Rapid Detection of Point Mutations Conferring Resistance to Fluoroquinolone in gyrA of Helicobacter pylori by Allele-Specific PCR

Nishizawa¹,

Suzuki²,

Umezawa

et al. 2007

J Clin Microbiol

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High Throughput Detection of Drug-Metabolizing Enzyme Polymorphisms by Allele-Specific Fluorogenic 5' Nuclease Chain Reaction Assay.

Cited by 42 publications

References 0 publications

Pyrosequencing of TPMT Alleles in a General Swedish Population and in Patients with Inflammatory Bowel Disease

Pyrosequencing of TPMT Alleles in a General Swedish Population and in Patients with Inflammatory Bowel Disease

Association Between the CYP3A5 Genotype and Blood Pressure

Rapid Detection of Point Mutations Conferring Resistance to Fluoroquinolone in gyrA of Helicobacter pylori by Allele-Specific PCR

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