Abstract：
BACKGROUND:An accurate determination of the major HFE mutation (C282Y), which is associated with hereditary hemochromatosis, is important in diagnosis and risk assessment for this disease. We report a single-tube high-throughput PCR method for the detection of C282Y. METHODS:We combined three previously described principles: allele-specific PCR, mutagenically separated PCR, and amplicon identification by specific dissociation curves. PCR amplification was performed with fluorescence detection or conventional thermocycler using the same primers, reactant constituents, and cycling protocol. Primer cross-reactions were prevented by deliberate primer:primer and primer:template mismatches. RESULTS:PCR products were identified by their characteristic melting temperatures based on SYBR Green I fluorescence. For each of the 256 random and 17 known HFE C282Y samples, mutant homozygous, wild-type, and heterozygous samples were unequivocally distinguished. CONCLUSIONS:This homogeneous assay is rapid, reproducible, does not require fluorescent oligonucleotide probes, and correctly identifies HFE genotypes.
journal_name
Clin Chemjournal_title
Clinical chemistryauthors
Donohoe GG,Laaksonen M,Pulkki K,Rönnemaa T,Kairisto Vsubject
Has Abstractpub_date
2000-10-01 00:00:00pages
1540-7issue
10eissn
0009-9147issn
1530-8561journal_volume
46pub_type
杂志文章abstract：:Lactate dehydrogenase (LD) isoenzymes 1 and 2 in human serum were separated on a column of diethylaminoethyl-Sephadex. Samples layered on mini-columns were eluted with buffered sodium chloride (100, 150, and 200 mmol/liter). Lactate dehydrogenase activity in column effluents was measured by the Wacker method, and thei...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1978-03-01 00:00:00
abstract：:Changes in values for myoglobin, total creatine kinase (EC 2.7.3.2), and creatine kinase B-subunit in the serum of patients with thyroid disease are compared with values for these during the 24-h after myocardial infarction. Concentrations of all three of these muscle-derived proteins were significantly higher than no...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1984-01-01 00:00:00
abstract：BACKGROUND:First introduced into clinical microbiology laboratories in Europe, MALDI-TOF MS is being rapidly embraced by laboratories around the globe. Although it has multiple applications, its widespread adoption in clinical microbiology relates to its use as an inexpensive, easy, fast, and accurate method for identi...
journal_title：Clinical chemistry
pub_type： 杂志文章,评审
doi：10.1373/clinchem.2014.221770
更新日期：2015-01-01 00:00:00
abstract：BACKGROUND:Kallikrein-related peptidase 6 (KLK6), a member of the serine protease family of kallikrein (KLK) genes, is dysregulated in ovarian carcinomas (OCa) and its overexpression is associated with poor prognosis. Regulation of its expression is poorly understood and is likely to be influenced by multiple mechanism...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：10.1373/clinchem.2012.193060
更新日期：2013-01-01 00:00:00
abstract：:The poly-T tract in intron 8 of the cystic fibrosis conductance transmembrane regulator (CFTR) gene exists in three variants, 5T, 7T, and 9T. The 7T and 9T variants generate a predominantly normal transcript, whereas the 5T variant engenders an anomalous product. The analysis of the poly-T tract is assuming increasing...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1998-05-01 00:00:00
abstract：BACKGROUND:MALDI-TOF mass spectrometry (MS) is set to make inroads into clinical chemistry because it offers advantages over other analytical platforms. These advantages include low acquisition and operating costs, ease of use, ruggedness, and high throughput. When coupled with innovative front-end strategies and appli...
journal_title：Clinical chemistry
pub_type： 杂志文章,评审
doi：10.1373/clinchem.2015.239491
更新日期：2016-01-01 00:00:00
abstract：BACKGROUND:The association between increases in cardiac troponin and adverse cardiac outcomes is well established. There is a growing interest in exploring routine cardiac troponin monitoring as a potential early indicator of adverse heart health trends. Prognostic use of cardiac troponin measurements requires an assay...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：10.1373/clinchem.2015.242081
更新日期：2015-10-01 00:00:00
abstract：BACKGROUND:The association of changes in oxidative and proinflammatory states with vascular function after diet and exercise intervention among obese children has not been previously explored. METHODS:In this 6-week diet and exercise intervention study in 35 obese children, age 12 to 18 years, we evaluated the relatio...
journal_title：Clinical chemistry
pub_type： 临床试验,杂志文章
doi：10.1373/clinchem.2007.089953
更新日期：2008-01-01 00:00:00
abstract：:We evaluated the Kallestad "Quanticoat" cortisol RIA for direct (no extraction) measurement of urinary free cortisol, which requires no solvent extraction. An analytical-recovery study showed a linear regression of y (measured) = 0.65x (added) + 37.5 micrograms/L (Sy.x = 21.4 micrograms/L, r = 0.978, n = 48). Recovery...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1989-01-01 00:00:00
abstract：:We compare measurement of total fast hemoglobin (HbA1) by "high-performance" liquid chromatography and by electrophoresis on agar gel. Blood samples were obtained from a diverse population (n = 222): offspring of two diabetic parents, diabetic patients with and without retinopathy, diabetic and non-diabetic pregnant w...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1981-03-01 00:00:00
abstract：BACKGROUND:The diagnosis of 22q11 deletion syndrome (22q11DS) is often delayed or missed due to the wide spectrum of clinical involvement ranging from mild to severe, often life-threatening conditions. A delayed diagnosis can lead to life-long health issues that could be ameliorated with early intervention and treatmen...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：10.1373/clinchem.2014.230086
更新日期：2015-01-01 00:00:00
abstract：BACKGROUND:Serial measurements of neurohormones have been shown to improve prognostication in the setting of acute heart failure (HF) or chronic HF without therapeutic intervention. We investigated the prognostic role of serial measurements of emerging neurohormones and BNP in a cohort of chronic HF patients undergoing...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：10.1373/clinchem.2009.125856
更新日期：2010-01-01 00:00:00
abstract：:We find lag phases exceeding 20 min in measuring creatine kinase activity, by using the kinetic creatin phosphate leads to creatine assay, in sera of some patients with carcinoma metastatic to the liver. Such long lag phases are accompanied by a decreased apparent enzyme activity. These problems are eliminated by addi...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1976-11-01 00:00:00
abstract：:6-thioguanine (6-TGN) and methyl 6-mercaptopurine nucleotides (Me6-MPNs) are the two major metabolites found in erythrocytes after administration of azathioprine. In an attempt to understand the role of these metabolites in the pharmacologic and toxic activity of thiopurines, we have developed a HPLC method for the si...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1998-03-01 00:00:00
abstract：:We developed a radioimmunoassay with a gamma-emitting radioligand to measure androstenedione in human serum and in dried blood-spot samples from newborns. Antisera were raised in rabbits against androstenedione linked to bovine serum albumin at positions 3, 6, or 11 on the steroid nucleus. Radioligands were prepared b...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1989-08-01 00:00:00
abstract：:This highly sensitive method for determination of beta 2-microglobulin (beta 2-m) in human urine or serum is based on direct agglutination by beta 2-m of latex particles on which an antibody against beta 2-m is adsorbed. The agglutination is quantified by counting the remaining unagglutinated particles, or by turbidim...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1981-06-01 00:00:00
abstract：:Creatine kinase (CK; EC 2.7.3.2) has been used as an indicator of myocardial cellular damage. In this study we used a Krebs-Henseleit (KH) solution to reperfuse isolated rat hearts after 24 h of cold preservation and collected the KH reperfusate for assay of CK to assess cellular damage. We wanted to determine the sta...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1990-05-01 00:00:00
abstract：:A high (2.0 mol/L) NaCl concentration apparently suppresses the secondary-site binding of bilirubin by human serum albumin. Thus if an excess of bilirubin is added to human serum albumin or to neonatal serum in buffer containing 0.1 mol of tris(hydroxymethyl)aminomethane and 2.0 mol of NaCl per liter (pH 7.5), and the...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1980-01-01 00:00:00
abstract：:We have developed a liquid chromatography-isotope dilution mass spectrometry procedure to quantify total cholesterol in serum. A particle-beam interface was used for coupling the liquid chromatograph and the mass spectrometer. After electron impact ionization the ions m/z = 386 and m/z = 389 were used for selective io...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1997-10-01 00:00:00
abstract：:The main developments in the "ligand assay" field in which I have been involved are traced. These include the original development of "first generation" competitive assays relying on radiolabeled analyte markers; the development of the first "second generation", noncompetitive (ultrasensitive) methods, which rely on t...
journal_title：Clinical chemistry
pub_type： 历史文章,杂志文章
doi：
更新日期：1998-09-01 00:00:00
abstract：:We measured the concentration of carboxyhemoglobin (HbCO) in blood samples from 32 neonates by spectrophotometry (IL282 CO-Oximeter) and gas chromatography, finding a strong positive correlation (r = 0.89) between the concentration of fetal hemoglobin (Hb F) and HbCO as measured by spectrophotometry, but not by gas ch...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1988-05-01 00:00:00
abstract：:We describe a case of sulfhemoglobinemia associated with toxic paint ingestion. Blood gases, oxygen content, and fractional hemoglobin derivatives were assayed with Radiometer 520 and OSM3 instruments. Although the CO-oximeters indicated the presence of sulfhemoglobin (SulfHb), the results were not quantitative. An OS...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1997-01-01 00:00:00
abstract：BACKGROUND:Several plasma proteins have been suggested as markers for a variety of cardiovascular conditions but fail to qualify in independent patient cohorts. This may relate to interference of medication on plasma protein concentrations. We used proteomics to identify plasma proteins that changed in concentration wi...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：10.1373/clinchem.2017.282665
更新日期：2018-10-01 00:00:00
abstract：:Carbohydrate-deficient transferrin (CDT) may now be the most valuable biological marker for diagnosis of alcohol abuse. We compared the diagnostic performance of two new CDT tests, Axis %CDT turbidimetric immunoassay (TIA) and Axis %CDT HPLC, against Specialty Laboratories' isoelectric focusing/immunoblotting/laser de...
journal_title：Clinical chemistry
pub_type： 临床试验,杂志文章
doi：
更新日期：1997-06-01 00:00:00
abstract：:A highly sensitive two-site sandwich ELISA measuring total proinsulin immunoreactive material in serum or plasma was developed. The assay was based on two monoclonal antibodies, an anti-C-peptide antibody bound to a microtest plate and a biotin-labeled anti-insulin antibody. The detection limit (3 SD above zero value)...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1993-10-01 00:00:00
abstract：BACKGROUND:Subfractions of HDL, particularly large HDL (HDL2), are inversely correlated with the severity of coronary artery disease (CAD). alpha-Tocopherol (AT) is the main lipid-soluble antioxidant in plasma. Results of a previous small study (n = 44) suggested that either a combination of an antioxidant cocktail [80...
journal_title：Clinical chemistry
pub_type： 杂志文章,随机对照试验
doi：10.1373/clinchem.2006.078865
更新日期：2007-03-01 00:00:00
abstract：:To evaluate their potential usefulness in the differential diagnosis of Cushing's syndrome, we estimated the urinary excretion rates of the following non-metabolized, unbound steroid hormones: pregnenolone, progesterone, 17-OH-pregnenolone, 17-OH-progesterone, dehydroepiandrosterone (DHEA), androstenedione, testostero...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1986-01-01 00:00:00
abstract：:Optimal reaction conditions for assaying human lactate dehydrogenase pyruvate-to-lactate were determined for isoenzymes 1 and 5 at 25, 30, and 37 degrees C. Three of the nine different buffers examined--imidazole, triethanolamine, and N-tris(hydroxymethyl)-methyl-2-aminoethane sulfonic acid--are satisfactory. Beta-NAD...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1978-02-01 00:00:00
abstract：:A novel noninstrumented technology (ChemTrak AccuMeter) for the quantitative measurement of analytes in biological fluids was reported at the 1990 Oak Ridge Conference (Clin Chem 1990;36:1591-7). This instrument-free technology has been adapted for the quantitative measurement of high-density lipoprotein (HDL). An in ...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1993-09-01 00:00:00
abstract：BACKGROUND:High circulating concentrations of N-terminal fragments of A- and B-type natriuretic peptides (NT-proANP and NT-proBNP) identify patients with impaired cardiac function. ProANP-derived peptides are particularly sensitive to increased preload of the heart and proBNP-derived peptides to increased afterload; th...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：10.1373/clinchem.2004.039891
更新日期：2005-04-01 00:00:00
