Abstract：
:We used a modification of the polymerase chain reaction (PCR), involving two pairs of oligonucleotide primers, to detect a mutation in the low-density lipoprotein (LDL) receptor gene, commonly occurring among patients with familial hypercholesterolemia (FH) in Finland. This mutation, called FH-Helsinki, involves a large (about 9500 base pairs, bp) deletion in the LDL receptor gene extending from intron 15 to exon 18. For the PCR, one pair of primers was designed to cover both sides of the deletion in its immediate vicinity. In the presence of the deletion, the primers were brought close enough to each other to allow the amplification and electrophoretic detection of a 300-bp amplification product. In the absence of the deletion, no amplification occurred and this band accordingly was not visible in the gel. To render the interpretation of the results unequivocal, we designed a second pair of oligonucleotide primers. This pair of primers allowed another amplification product (158 bp) to appear in samples containing a normal exon 17, i.e., in DNA specimens from healthy subjects and FH heterozygotes with or without the FH-Helsinki deletion. The technique is easy to perform, avoids the use of radioactive reagents, and is applicable to the detection of any extensive DNA deletion.
journal_name
Clin Chemjournal_title
Clinical chemistryauthors
Keinänen M,Ojala JP,Helve E,Aalto-Setälä K,Kontula K,Kovanen PTsubject
Has Abstractpub_date
1990-06-01 00:00:00pages
900-3issue
6eissn
0009-9147issn
1530-8561journal_volume
36pub_type
杂志文章abstract：:We present an improved fructosamine assay for use with the Technicon RA-1000 analyzer. Features of this assay include: specimen throughput of 100 per hour, within-batch CV of 1.5%, between-batch CV of 2.4%, standard curve linear up to 24.9 mmol of fructosamine per liter, and good correlation (r = 0.82) with hemoglobin...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1985-12-01 00:00:00
abstract：:We measured changes in concentrations of magnesium, zinc, calcium, potassium, cholesterol [total and high-density lipoproteins (HDL)], total creatine kinase (CK), and CK isoenzyme-MB in plasma (PI) and/or erythrocytes (Erc) from apparently healthy subjects and from patients with either pre-infarction syndrome (PIS) or...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1988-10-01 00:00:00
abstract：BACKGROUND:Increased plasma troponin T (cTnT), but not troponin I (cTnI), is frequently observed in end-stage renal failure patients. Although generally considered spurious, we previously reported an associated increased mortality at 12 months. METHODS:We studied long-term outcomes in 244 patients on chronic hemodialy...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：2001-03-01 00:00:00
abstract：:The kidney and its response to the antidiuretic hormone (ADH) are the principal protective mechanisms necessary to maintain a normal plasma tonicity (osmolality). Hence, determination of the response of the ADH-renal axis to an abnormal plasma tonicity is an important step to understanding water homeostasis. Determina...
journal_title：Clinical chemistry
pub_type： 杂志文章,评审
doi：
更新日期：1994-07-01 00:00:00
abstract：:We investigated two techniques of immunoblotting--the Western blot and the dot blot--for use in detecting prostatic acid phosphatase (PAP, EC 3.1.3.2). We used polyclonal antisera to human PAP, produced in rabbits by hyperimmunization with purified PAP, and PAP-specific monoclonal antibodies in the immunoenzymatic pro...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1986-10-01 00:00:00
abstract：BACKGROUND:The gene that causes most cases of hereditary hemochromatosis is designated HFE. Individuals with mutations in the HFE gene may have increased serum iron, transferrin saturation, and ferritin concentrations relative to individuals with the wild-type genotype. METHODS:We generated reference centiles for perc...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：2001-10-01 00:00:00
abstract：:We examined the relationship in a large-living population between the concentration of triglycerides in plasma from fasting persons and the concentration of very-low-density lipoprotein cholesterol (VLDL-C) as determined after preparative ultracentrifugation. Data from individuals in the Framingham Heart Study who wer...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1981-12-01 00:00:00
abstract：:We have developed an interactive statistical quality-control system for the small- to medium-sized radioimmunoassay laboratory, which can be used in a programmable desk-top calculator instead of the medium- or large-scale computer systems usually required. The design of this quality-control system is modeled after the...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1978-07-01 00:00:00
abstract：BACKGROUND:Hyperhomocysteinemia (HHcy) has been linked to impaired left ventricular function and clinical class in patients with chronic heart failure. We hypothesized that HHcy stimulates myocardial brain natriuretic peptide (BNP) expression and induces adverse left ventricular remodeling. METHODS:We randomized 50 ra...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：10.1373/clinchem.2006.077859
更新日期：2007-04-01 00:00:00
abstract：:This procedure for routine quantification of albumin in urine is based on the dye-binding properties of albumin with bromphenol blue. The absorbance of 100 microL of urine mixed with 3 mL of color reagent is measured against blank reagent at 610 nm after 30 s. Results vary linearly with albumin concentration up to 6 g...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1987-02-01 00:00:00
abstract：:Sensitivity, stability, and specificity of the color-producing reaction of hydrogen peroxide with bezidine, leuco-malachite green, or o-dianisidine were tested in numerous systems containing hemoglobin and other hemoproteins. Use of urea or low temperature (to minus 12 degrees C), or both, was highly beneficial, espec...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1975-03-01 00:00:00
abstract：BACKGROUND:Disease-defining chromosomal translocations are seen in various neoplasms, especially in lymphomas and leukemias. Translocation detection at the DNA level is often complicated by chromosomal breakpoints that are distributed over very large regions. We have developed a ligation-based assay [the looped ligatio...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：10.1373/clinchem.2016.270140
更新日期：2017-07-01 00:00:00
abstract：:Direct-injection analysis for phenylalanine in plasma by isocratic "high-performance" liquid chromatography (HPLC) is described. For chromatographic separation I use an internal-surface reversed-phase silica support. The method involves ultraviolet detection, requires as little as 10 microL of plasma (routinely 20 mic...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1989-06-01 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
abstract：:Using "high performance" liquid chromatography, we studied non-protein-bound fractions and total concentrations of 18 solutes accumulating in sera from a group of 12 patients who were undergoing chronic ambulatory peritoneal dialysis (CAPD) and in predialysis sera from a group of 15 hemodialysis (HD) patients. We moni...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1988-01-01 00:00:00
abstract：:We developed a fluorometric method for determining delta-aminolevulinic acid (ALA) in urine of lead workers. A high-performance liquid chromatograph (HPLC) equipped with a fluorescence HPLC monitor is used. The detection limit for aqueous ALA is 20 micrograms/L (15 pmol of ALA in the 100-microL sample). The working li...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1987-09-01 00:00:00
abstract：:Urinary excretion of orally administered lactulose is used as an index of intestinal permeability. We have developed a simple thin-layer chromatographic technique for measuring lactulose in urine, using silica gel 60 plates and a propanol-borate solvent system. Lactulose concentrations as low as 62.5 mg/L can be detec...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1987-07-01 00:00:00
abstract：BACKGROUND:The kidney performs a multitude of essential functions to maintain homeostasis. In clinical medicine, glomerular filtration rate (GFR) provides the best index of overall kidney function, and proteinuria adds additional information on renal and nonrenal prognosis. Several novel biomarkers of kidney injury and...
journal_title：Clinical chemistry
pub_type： 杂志文章,评审
doi：10.1373/clinchem.2011.167494
更新日期：2012-04-01 00:00:00
abstract：:We describe an improved separation of the isoenzymes of aspartate aminotransferase (EC 2.6.1.1), based on ion-exchange chromatography. Involving the "Fast Protein Liquid Chromatography" system (Pharmacia) with a MonoQ column, this rapid, reproducible method for quantifying the mitochondrial enzyme shows good resolutio...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1990-02-01 00:00:00
abstract：:The diagnosis of thyroid disease now often can be achieved reliably by measuring thyrotropin (TSH) alone. Thyroxine (T4), triiodothyronine, and other analytes are only needed if TSH and the accompanying clinical condition are discordant. We describe here work that confirms the age independence of TSH in both inpatient...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1997-11-01 00:00:00
abstract：BACKGROUND:Increased urinary albumin excretion is a well-documented diagnostic and prognostic biomarker for renal disease. Urinary albumin is typically measured in clinical settings by immunoassay methods. However, neither a reference method nor a urine albumin calibration reference material is currently available. ME...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：10.1373/clinchem.2009.129833
更新日期：2009-11-01 00:00:00
abstract：:In photometry, where both the product formed and one or several reactants absorb light at the same wavelength, the absorbance of the "blank" of the sample at the end of the reaction may be less than that measured at the beginning of the reaction, because of consumption of reactant(s). The blank correction factor for t...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1985-03-01 00:00:00
abstract：BACKGROUND:Patients with trophoblastic diseases produce ordinary and irregular forms of human chorionic gonadotropin (hCG; e.g., nicked hCG, hCG missing the beta-subunit C-terminal segment, hyperglycosylated hCG, and free beta subunit) that are recognized to differing extents by automated immunometric hCG (or hCG beta)...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：2001-02-01 00:00:00
abstract：BACKGROUND:The Elecsys beta-CrossLaps serum assay measures type I collagen degradation fragments (beta-CTx) that contain the beta-isomerized octapeptide EKAHD-beta-GGR. We investigated the analytical performance of the assay and changes in beta-CrossLaps in patients with metabolic bone diseases. METHODS:The electroche...
journal_title：Clinical chemistry
pub_type： 临床试验,杂志文章
doi：
更新日期：2001-08-01 00:00:00
abstract：:We evaluated a new kinetic assay for alpha-amylase (Phadebas IsoAmylase Test), using modified starch as the substrate and a CentrifiChem 400 centrifugal analyzer system. We determined isoamylase activities by using a selective inhibitor. Results were compared with those obtained with the chromogenic Phadebas dyed-star...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1983-06-01 00:00:00
abstract：:In radioimmunoassay of digoxin by the dextran-coated charcoal method, duration of the incubation period for the antigen-antibody reaction and time allowed for dextran-coated charcoal to absorb the free antigen are critical factors. We compared effects of prolonged periods of absorption on results obtained with five co...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1975-02-01 00:00:00
abstract：:We adapted the method of McCaman and Robins for fluorometry of phenylalanine to a microplate assay for routine phenylketonuria screening. Sensitivity is 15 mumol/L for the plasma assay and 30 mumol/L for the dried blood-spot assay, with CV less than 10% for both assays. Results for human plasma by microplate assay cor...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1989-10-01 00:00:00
abstract：:Even though significant progress has been made in the development of electrodes for the in vivo detection of catecholamines, oxygen, and various cations, there has been little research on the feasibility of continuously monitoring drugs in whole blood by electrochemical sensing devices. Electroanalytical problems asso...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1982-09-01 00:00:00
abstract：:We describe a sensitive method for the determination of vanadium in biological substances by atomic absorption spectroscopy. By using background correction and pyrolytically coated graphite tubes with flameless apparatus, this vanadium assay has a sensitivity of 65 pg and a detection limit of 30 pg, approximately sixf...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1982-01-01 00:00:00
abstract：:We have developed an automated latex agglutination test for Treponema pallidum (TPLA) for measurement of the concentration of treponemal antibodies in syphilitic sera. The assay needs neither a complicated pretreatment of the sera nor special techniques. Intra- and interassay precision studies showed high reproducibil...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1993-08-01 00:00:00
