Abstract:
BACKGROUND:Dried blood spots (DBS) are a convenient and inexpensive method for biobanking. Although many countries have established population-based DBS biobanks from neonatal screening programs, the quality and usefulness of DNA from DBS have not been extensively assessed. METHODS:We compared 4 common DNA extraction methods (Qiagen, EZNA, Chelex 100, and alkaline lysis) in a pilot study using fresh DBS with known lymphocyte count. We assessed suitability for multiple displacement amplification (MDA) and subsequent single-nucleotide polymorphism (SNP) analyses. We selected the EZNA method for DNA extraction from archival samples up to 27 years old, stored at room temperature or -20 degrees C, and SNP analyses were performed after MDA. RESULTS:Extraction using alkaline lysis failed in most tests, and Chelex 100 was unsuccessful in real-time PCR, whereas the EZNA and Qiagen methods were successful by all evaluated quality indices. DNA extraction by EZNA, MDA, and SNP analyses were successful for the archival samples stored at -20 degrees C. CONCLUSION:Routine protocols for evaluation of the quality and functional integrity of DNA based on DNA yield, DNA size, and quantification of amplifiable DNA allow use of sufficient template for MDA and successful SNP analyses from both primary DBS extract and MDA product. A single 3-mm disc can yield sufficient DNA for several thousand SNP analyses. DNA from DBS is thus suitable for genetic epidemiology studies.
journal_name
Clin Chemjournal_title
Clinical chemistryauthors
Sjöholm MI,Dillner J,Carlson Jdoi
10.1373/clinchem.2007.087510subject
Has Abstractpub_date
2007-08-01 00:00:00pages
1401-7issue
8eissn
0009-9147issn
1530-8561pii
clinchem.2007.087510journal_volume
53pub_type
杂志文章abstract::We report results of a quality-control survey of radioimmunoassay (RIA) of eight analytes, participated in by 249 laboratories of various types throughout Japan. For the purpose of the external control survey, lyophilized specimens containing two different concentrations of each analyte were sent to the participating ...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1983-08-01 00:00:00
abstract::We describe the use of electron-capture gas chromatography or reversed-phase "high-performance" liquid chromatography for concurrent analysis for diazepam and nordiazepam in serum. In the gas-chromatographic analysis our use of a new chemically deactivated stationary liquid phase, SP 2250-DB (Supelco, Inc.), resulted ...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1979-07-01 00:00:00
abstract::We have improved the protocol for RNA quantification by using RNase protection. Instead of precipitation and extraction with phenol and chloroform, we use a faster and more reliable precipitation based on guanidinium thiocyanate (GdSCN). The internal standard is produced by in vitro transcription of a DNA template con...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1995-11-01 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::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::We describe a simple fluoroimmunoassay for the determination of thyroxine concentrations in serum. The method, "sequential addition, separation fluoroimmunoassay," involves both thyroxine labeled with fluorescein and magnetizable cellulose/iron oxide particles to which antibodies to thyroxine have been covalently link...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1980-11-01 00:00:00
abstract::Detection and characterization of small IgM paraproteins by immunoelectrophoresis are often difficult because of (a) slow diffusion of the macromolecular immunoglobulin, and (b) the obscuring of the light chain, especially kappa, by the light chains of background polyclonal immunoglobulin (the "umbrella effect"). Vari...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1988-08-01 00:00:00
abstract:BACKGROUND:D-2-Hydroxyglutaric aciduria (D-2-HGA), L-2-hydroxyglutaric aciduria (L-2-HGA), and the combined D/L-2-hydroxyglutaric aciduria (D/L-2-HGA) are poorly understood organic acidurias. To investigate the usefulness of cultured human skin fibroblasts for both diagnostic and research purposes, we measured disease-...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:10.1373/49.7.1133
更新日期:2003-07-01 00:00:00
abstract::We present a case of advanced ovarian carcinoma associated with high concentrations of serum and urine amylase. Biochemical analysis to elucidate the nature and origin of the hyperamylasemia identified seven amylase isoenzymes, of which five appeared to be distinct from normal salivary and pancreatic amylase. We discu...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1979-06-01 00:00:00
abstract::In routine analysis for immunoglobulin light chains in pediatric diagnostics, the age-related reference intervals for serum kappa (kappa) and lambda (lambda) light chains were evaluated in 1543 healthy subjects (newborns to age 16 years, including 168 premature infants). Light-chain analysis was performed by rate neph...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1992-04-01 00:00:00
abstract::We describe a method for determination of guanidino compounds in plasma and erythrocytes. The compounds are separated by liquid chromatography, the concentrations in the effluent being estimated fluorometrically (Trans. Am. Soc. Artif. Intern. Organs 24: 61, 1978). Guanidinoacetic acid, guanidinosuccinic acid, guanidi...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1981-11-01 00:00:00
abstract::The Dutch Foundation for Quality Assessment in Clinical Chemistry (SKZL) is the professional organization that conducts external quality-assessment schemes in The Netherlands. However, such schemes in fact assess the performance of the internal quality-control systems of the participating laboratories. In this paper w...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1991-07-01 00:00:00
abstract::o-Phthaldialdehdye reagent was used in assaying urea with a miniature centrifugal analyzer. Seventeen samples can be assayed kinetically in 2 min at a current cost of less than a penny per test. The reaction is initiated in the instrument upon simultaneous mixing of the o-phthaldialdehyde reagent containing 10 microli...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1978-12-01 00:00:00
abstract::Consecutive values for serum osmolality measured in a patient exceeded (548 mOsm) the previously reported pathological range and, indeed, exceeded that generally considered compatible with life. The patient was receiving large amounts of intravenous dimethyl sulfoxide as part of an experimental protocol to control int...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1980-11-01 00:00:00
abstract:BACKGROUND:Gas6 is a vitamin K-dependent antiapoptotic protein that has been implicated in cardiovascular pathophysiology. We report the development and validation of an ELISA for Gas6, and the variation of plasma Gas6 with hormonal status in a study designed to evaluate the effect of oral contraception on plasma marke...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:10.1373/clinchem.2007.089102
更新日期:2007-10-01 00:00:00
abstract::A rapid and precise immunoassay for quantification of total homocysteine in blood samples is presented. The method avoids the use of radioisotopes and chromatographic separations and relies on enzymatic conversion of homocysteine to S-adenosyl-L-homocysteine, followed by quantification of S-adenosyl-L-homocysteine by ...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1998-02-01 00:00:00
abstract::We describe a simple, rapid fluorometric assay for separate quantitative analysis of procainamide and N-acetylprocainamide in mixtures. The effective lenear range (fluorescence vs. concentration) in serum is 0.1 to 10.0 mg/liter, regardless of the ratio (by weight) of the two drugs from 1:10 to 10:1. Analytical recove...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1975-12-01 00:00:00
abstract::Genetic engineering of beta-galactosidase (EC 3.2.1.23) has led to the development of a new homogeneous assay system, CEDIA. The Z gene of the lac operon of Escherichia coli encodes a large enzymatically inactive polypeptide that spontaneously aggregates and folds to form active beta-galactosidase. Using recombinant D...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1986-09-01 00:00:00
abstract::We describe a ratio gas-chromatographic method for determination of cortisol production rate by measuring the isotope dilution of urinary cortisol metabolites. The method was calibrated by analyzing [3H]tetrahydrocortisol and [3H]tetrahydrocortisone of known specific activities. Results are reasonably well reproducibl...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1977-03-01 00:00:00
abstract::The current debate on our healthcare system has focused primarily on the cost of care. Because of drastically rising costs and their burden on our economy, government and the private sector have developed many approaches to reduce these costs. Managed care, special contracting arrangements, and government fiat have al...
journal_title:Clinical chemistry
pub_type: 杂志文章,评审
doi:
更新日期:1995-05-01 00:00:00
abstract::To understand the regulation of immunity one must understand the processes and the consequences of the activation of the lymphoid cell, its clonal proliferation, and the ultimate differentiation of the progeny into the effector elements that constitute the immune system. By use of polyclonal mitogens, individual T-cel...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1984-12-01 00:00:00
abstract:BACKGROUND:Because reference values for vitamin B(12) concentrations and vitamin B(12)-binding capacities for pregnant women have not been established, the reference values for nonpregnant women are often applied to assess vitamin B(12) status. The aim of the present study was to describe ranges of biochemical indices ...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:2002-06-01 00:00:00
abstract::Haptoglobin is a hemoglobin-binding protein expressed by a genetic polymorphism as three major phenotypes: 1-1, 2-1, and 2-2. Most attention has been paid to determining haptoglobin phenotype as a genetic fingerprint used in forensic medicine. More recently, several functional differences between haptoglobin phenotype...
journal_title:Clinical chemistry
pub_type: 杂志文章,评审
doi:
更新日期:1996-10-01 00:00:00
abstract::This new assay procedure for diaphorase eliminates problems of high blank rates and nonlinear kinetics associated with other methods. The dye thiazolyl blue tetrazolium bromide is reduced in the presence of NADH and diaphorase to yield a colored formazan, which as maximum absorbance at 560 nm. ...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1979-12-01 00:00:00
abstract::The potential errors of the one-point calibration technique are described mathematically. I examine the theoretical causes and effects of analytical errors in absorbance and of errors in determining calibration concentration, and discuss techniques for minimizing their impact. The dependence of these errors on the cal...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1984-07-01 00:00:00
abstract::We describe a sensitive and precise gas-chromatographic method, in which cytosine is used as the internal standard, for determination of an antifungal agent, 5-fluorocytosine, in serum. The trimethylsilyl derivative of this drug is well separated from the internal standard and from normal serum constituents. Amphoteri...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1976-06-01 00:00:00
abstract::This paper reviews our ability to predict survival and neurodevelopmental outcome in the newborn period. Traditionally, prognosis is based on individual risk factors or disease states. The laboratory plays an important role in diagnosing some of these. For example, prenatal and newborn screening are important in the d...
journal_title:Clinical chemistry
pub_type: 杂志文章,评审
doi:
更新日期:1997-01-01 00:00:00
abstract:BACKGROUND:Efforts have been undertaken recently to assess the fetal genome through analysis of circulating cell-free (ccf) fetal DNA obtained from maternal plasma. Sequencing analysis of such ccf DNA has been shown to enable accurate prenatal detection of fetal aneuploidies, including trisomies of chromosomes 21, 18, ...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:10.1373/clinchem.2011.180794
更新日期:2012-07-01 00:00:00
abstract:BACKGROUND:24,25-Dihydroxyvitamin D [24,25(OH)2D] in serum may be both a nuisance and nutritionally valuable. METHODS:We investigated the impact of 24,25(OH)2D3 on the performance of commercially available immunoassays for serum total 25-hydroxyvitamin D [25(OH)D] using (a) serum from a nationally representative sampl...
journal_title:Clinical chemistry
pub_type: 杂志文章,随机对照试验
doi:10.1373/clinchem.2014.234955
更新日期:2015-04-01 00:00:00
abstract::Diabetic patients in poor glycemic control show increased glycation of total plasma proteins, but little is yet known about the relative extents to which the various individual proteins are glycated. Thus, we studied the non-enzymic glycation of several major plasma proteins and plasma protein fractions in normal and ...
journal_title:Clinical chemistry
pub_type: 杂志文章
doi:
更新日期:1987-12-01 00:00:00