Abstract:
:Microsatellite typing is frequently used in disease diagnosis and in genetic association studies. Inter-study consistency and comparability is essential in both applications. In this study, we show that the interlaboratory comparison of microsatellite sizes is often discrepant and misleading. This is a matter of great concern in the recent literature. However, accurate allele designation is easily attainable by the simple procedures we report, which are applicable to all gel-based genotyping methods. These involve: 1) the creation of dedicated standards for a specific microsatellite by PCR-amplifying representative alleles to generate an allelic ladder with comparable electrophoretic characteristics; 2) including both internal and external standards during electrophoresis to facilitate alignment. In addition, we recommend procedures that will improve inter-study comparability of all microsatellite analyses regardless of genotyping method. These involve: 1) cloning and sequencing representative microsatellite alleles to obtain accurate size designation; 2) sharing alleles of known sequence between laboratories to use as standards. We report on the typing of natural resistance-associated macrophage protein (NRAMP2) and interferon-y (IFNG) gene microsatellites as examples, the latter of which is crucial to many pathogenic processes. We describe in detail the varying allele sizes obtained by different methods, which prevent meaningful inter-study comparisons.
journal_name
Clin Chem Lab Medjournal_title
Clinical chemistry and laboratory medicineauthors
Rossouw M,Warren R,Hoal EGdoi
10.1515/CCLM.2002.162keywords:
subject
Has Abstractpub_date
2002-09-01 00:00:00pages
926-9issue
9eissn
1434-6621issn
1437-4331journal_volume
40pub_type
杂志文章abstract::Background Non-small cell lung cancer (NSCLC) patients benefit from targeted therapies both in first- and second-line treatment. Nevertheless, molecular profiling of lung cancer tumors after first disease progression is seldom performed. The analysis of circulating tumor DNA (ctDNA) enables not only non-invasive bioma...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/cclm-2019-0745
更新日期:2020-01-28 00:00:00
abstract:BACKGROUND:Heparin is the standard drug for anticoagulation treatment and is used in many cardiac surgical interventions to prevent blood clotting. The anticoagulation status is controlled by various clotting tests. However, these tests depend on parameters like temperature, hemodilution etc. and are thus not applicabl...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/cclm-2013-0278
更新日期:2013-10-01 00:00:00
abstract:BACKGROUND:The knowledge of physiological fluctuation and variation of even commonly used biochemical quantities in extreme age groups and during development is sparse. This challenges the clinical interpretation and utility of laboratory tests in these age groups. To explore the utility of hospital laboratory data as ...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/cclm-2014-0949
更新日期:2015-09-01 00:00:00
abstract:BACKGROUND:The arginine derivatives asymmetric dimethylarginine (ADMA) and symmetric dimethylarginine (SDMA) interfere with endothelial nitric oxide synthesis. Plasma ADMA and SDMA have been shown to be risk factors for cardiovascular disease and/or kidney function deterioration in a variety of patient populations. ME...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/CCLM.2007.277
更新日期:2007-01-01 00:00:00
abstract::A software has been developed on quality control, department economics, information supervise and personal administration. In this article, we discuss the part of quality control, from which we benefit most, on developing ideas, running principle, and application. This network will enable the implementation of total q...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/CCLM.2001.195
更新日期:2001-12-01 00:00:00
abstract:BACKGROUND:Post-menopausal osteoporosis (PO) affecting a large fraction of elderly women, is triggered by the decline in 17β-estradiol (E2) level. Experimental studies in animal models and cell cultures have suggested that the fall in E2 might contribute to developing oxidative stress (OS) which in turn is believed to ...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/cclm-2012-0095
更新日期:2013-02-01 00:00:00
abstract:BACKGROUND:The measurement of serum IgE aids in the diagnosis and management of atopic allergic disease and hyper-IgE immunodeficiency syndromes. The 2nd World Health Organization (WHO) International Reference Reagent (IRR) for serum IgE (75/502; 5000 IU/ampoule), is widely used to calibrate assays for serum IgE. Exhau...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/cclm-2014-0243
更新日期:2014-09-01 00:00:00
abstract::Despite substantial evidence indicating the association of hyperhomocysteinemia (hHcys) and end-stage renal disease (ESRD), the pathogenic role of increased plasma homocysteine (Hcys) levels in the progression of ESRD remains unclear. This review will briefly summarize recent findings regarding the role of hHcys in th...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章,评审
doi:10.1515/CCLM.2007.344
更新日期:2007-01-01 00:00:00
abstract::Reference intervals for healthy subjects and diseased populations are important benchmarks for the clinical interpretation of laboratory test values. It is important that the testing conditions used to collect the reference data be closely matched with the testing conditions used for patient data. Interlaboratory diff...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章,评审
doi:10.1515/CCLM.2004.127
更新日期:2004-01-01 00:00:00
abstract::The mutant of CYP2D6*3 allele with A2637 deletion in exon 5 and the mutant of CYP2D6*4 allele G1934-->A, splice site defect are among the most common polymorphic alleles of CYP2D6 gene, resulting in a decreased or no activity of CYP isoenzyme. In this study, a reliable polymerase chain reaction-restriction fragment le...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/CCLM.1998.116
更新日期:1998-08-01 00:00:00
abstract:BACKGROUND:After the re-introduction of ImmunoCAP® ISAC sIgE 112 on the market, we undertook a study to evaluate the performance of this multiplex-based immunoassay for IgE measurements to allergen components. METHODS:The study was carried out at 22 European and one South African site. Microarrays from different batch...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章,多中心研究
doi:10.1515/cclm-2016-0586
更新日期:2017-03-01 00:00:00
abstract:BACKGROUND:The European Directive 98/79/EC on in-vitro diagnostic medical devices (IVDs) regulates IVD marketing practices and post-market surveillance. IVD manufacturers have to inform the responsible Competent Authorities of any issues. In Germany, the Federal Institute for Drugs and Medical Devices (BfArM) is respon...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/CCLM.2007.058
更新日期:2007-01-01 00:00:00
abstract:BACKGROUND:Neutrophil gelatinase-associated lipocalin (NGAL) has been suggested as the most promising biomarker of acute kidney injury. However, there are no reliable data on analytical sensitivity and reference limits of urinary NGAL (uNGAL) assay in pediatric age. The aim of the present study is to evaluate the analy...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/cclm-2012-0540
更新日期:2013-05-01 00:00:00
abstract::The availability of so-called high-sensitivity troponin assays (hsTn) has scored a compelling goal for laboratory medicine, allowing the safe clinical application of international recommendations for the definition of acute myocardial infarction (AMI). However, the introduction of hsTn has not been welcomed by clinici...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章,评审
doi:10.1515/cclm-2014-0812
更新日期:2015-04-01 00:00:00
abstract:BACKGROUND:Sickle cell disease is a major health burden in India. The aim of the study was to compare the diagnostic utility of two different approaches on automated high performance liquid chromatography (HPLC) for newborn screening for sickle cell disorders and other haemoglobinopathies in India. METHODS:Newborn bab...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/cclm-2014-0452
更新日期:2014-12-01 00:00:00
abstract:BACKGROUND:Our laboratory was confronted with two successive urine samples from a single patient which tested positive for human chorionic gonadotropin (hCG) when tested with both qualitative and quantitative assays, combined with no detectable hCG in corresponding plasma samples. METHODS:Serial dilution and recovery ...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/CCLM.2011.158
更新日期:2011-06-01 00:00:00
abstract:BACKGROUND:Knowledge of the fatty acid composition of lipid classes in human plasma is an important factor in the investigation of human metabolism. Therefore, a method for the analysis of neutral lipid (NL), phospholipid (PL) and free fatty acids (FFA) in human plasma has been developed and validated. METHODS:Separat...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/cclm-2012-0203
更新日期:2013-04-01 00:00:00
abstract:BACKGROUND:It has been proposed that only anti-thyroid-peroxidase (TPOAb) and not anti-thyroglobulin (TgAb) antibodies should be assayed in the diagnosis of autoimmune thyroid disease (AITD). METHODS:We analyzed the thyroid autoantibody profile with a multiplex bead array system, which allows simultaneous measurement ...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/CCLM.2006.137
更新日期:2006-01-01 00:00:00
abstract:Objectives:External quality assessment schemes (EQAS) are being established worldwide to support the faecal immunochemical test (FIT) for haemoglobin (Hb). FIT is widely used as a screening test for colorectal cancer and increasingly in assessment of patients presenting with symptoms. EQA for FIT is provided in several...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/cclm-2020-0210
更新日期:2020-08-07 00:00:00
abstract:BACKGROUND:The calibration of Jaffe method for serum creatinine using one serum-based standard complemented with artificial matrix compensating standard's Jaffe-interfering substances allows two-point calibration with results well comparable with enzymatic methods. METHOD:Spectrophotometry was used. RESULTS:Jaffe pro...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/CCLM.2008.224
更新日期:2008-01-01 00:00:00
abstract::Circulating tumor cells (CTCs) provide unique information for the management of breast cancer patients, since their detection and monitoring is useful for prognosis, prediction of response to therapy, or monitoring clinical course in patients with localized or metastatic disease. Currently, the most practical applicat...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章,评审
doi:10.1515/CCLM.2011.628
更新日期:2011-10-01 00:00:00
abstract:BACKGROUND:The Schwartz 2009 creatinine-based revised formula is the only pediatric GFR estimating formula, which is compatible with the recent global creatinine standardization. This formula is only applicable if enzymatic creatinine methods are used. We propose an equation, taking into account the relative bias cause...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/cclm-2012-0033
更新日期:2012-03-09 00:00:00
abstract::Classical genetic studies involving the analysis of pedigrees and recurrence risk within families have defined the extent to which genetic factors contribute to the aetiology of multiple sclerosis. Limited progress has been made in identifying the number and topography of genetic loci contributing to susceptibility th...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章,评审
doi:10.1515/CCLM.2000.020
更新日期:2000-02-01 00:00:00
abstract:BACKGROUND:Given the role of folate in many disorders, intracellular distribution of folate vitamers is of potential clinical importance. In particular, accumulation of non-methyltetrahydrofolates due to altered partitioning of folate metabolism at the level of methylenetetrahydrofolate is of interest. METHODS:We desc...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/CCLM.2006.085
更新日期:2006-01-01 00:00:00
abstract::Soluble transferrin receptor (sTfR) is reported to be a reliable marker for the diagnosis of iron deficiency, especially when iron metabolism is influenced by inflammatory disorders such as infection, chronic inflammation and cancer-related anemia. In the present multicenter study the analytical performance of a recen...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/CCLM.2002.091
更新日期:2002-05-01 00:00:00
abstract:BACKGROUND:EGFR mutation is an emerging biomarker for treatment selection in non-small-cell lung cancer (NSCLC) patients. However, optimal mutation detection is hindered by complications associated with the biopsy procedure, tumor heterogeneity and limited sensitivity of test methodology. In this study, we evaluated th...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/cclm-2016-0851
更新日期:2017-10-26 00:00:00
abstract::The variability of the tumor markers cancer antigen (CA) 15.3, carcinoembryonic antigen (CEA) and tissue polypeptide antigen (TPA) during steady state concentrations and the rate of increase during progression is described. One hundred and ninety-two patients were monitored during first-line chemotherapy for metastati...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/CCLM.2000.066
更新日期:2000-05-01 00:00:00
abstract:BACKGROUND:Mid-regional pro-adrenomedullin (MR-proADM) and endothelin-1 have been shown to predict mortality of patients with acute myocardial infarction. However, the prognostic value of both biomarkers in predicting long-term clinical events after acute myocardial infarction remains unclear. METHODS:In a prospective...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/CCLM.2008.040
更新日期:2008-01-01 00:00:00
abstract::Background Monitoring of immunosuppressive drugs such as everolimus and sirolimus is important in allograft rejection prevention in transplant patients. Dried blood spots (DBS) sampling gives patients the opportunity to sample a drop of blood from a fingerprick at home, which can be sent to the laboratory by mail. Met...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/cclm-2019-0053
更新日期:2019-11-26 00:00:00
abstract::The formation of superoxide partially accounts for the well-known oxygen enhancement of radiation-induced biochemical changes and cell damage. Radioprotective effects of copper (II), manganese (IV) or vanadium (IV) complexes, of superoxide dismutase-mimetic activity, on body weight, survival rate and some biochemical ...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/CCLM.2003.141
更新日期:2003-07-01 00:00:00