Abstract:
BACKGROUND:Lactase persistence is an inherited autosomal dominant trait that confers the ability to digest lactose after weaning. Lactose persistence is caused by single nucleotide variants in a regulatory element for the lactase gene (LCT). In Europeans, lactase persistence is associated with the nucleotide variant LCT -13910C>T. Ethnic groups from Africa and the Arabian Peninsula have other lactase persistence variants in close proximity to the -13910C>T variant. Current hybridisation probe analysis methods have been limited by the inability to detect all the known nucleotide variants. The aim of this study was to devise a method based on hybridisation probes and melting curve analysis for rapidly detecting LCT variants. METHODS:We designed hybridisation probes for producing melting curve profiles that could identify seven LCT nucleotide variants: -13907C>G, -13910C>T, -13913T>C, -13914G>A, -13915T>G, -14009T>G, and -14010G>C. To validate the assay, we generated plasmid standards of all the alleles and mixed them to create artificial heterozygote samples. RESULTS:All genotypes could be detected in a single tube assay. Rare genotypes were confirmed in a second assay with probes that had different complementary sequences. CONCLUSIONS:This assay can be used for rapidly genotyping lactase persistence in multi-ethnic populations.
journal_name
Clin Chem Lab Medjournal_title
Clinical chemistry and laboratory medicineauthors
Strand H,Sørensen LK,Ingebretsen OCdoi
10.1515/cclm-2014-0123subject
Has Abstractpub_date
2014-09-01 00:00:00pages
1277-82issue
9eissn
1434-6621issn
1437-4331pii
/j/cclm.ahead-of-print/cclm-2014-0123/cclm-2014-01journal_volume
52pub_type
杂志文章abstract:BACKGROUND:The plasma total and low-density lipoprotein-cholesterol (LDL-C) levels that are used as diagnostic criteria for familial hypercholesterolaemia (FH) probands in the general population are too stringent for use in relatives, given the higher prior probability of a first-degree relative being FH (50% vs. 1/500...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/CCLM.2008.135
更新日期:2008-01-01 00:00:00
abstract:BACKGROUND:Faecal immunochemical tests (FIT) are becoming widely used in colorectal cancer screening. Estimation of faecal haemoglobin concentration in a large group prompted an observational study on gender and age. METHODS:A single estimate of faecal haemoglobin concentration was made using quantitative automated im...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/CCLM.2011.815
更新日期:2011-12-07 00:00:00
abstract::Recent studies demonstrated that large amounts of the pro-hormone peptide of brain natriuretic peptide (proBNP) can be detected in plasma of healthy subjects and in particular of patients with heart failure. As a result, a great part of B-type natriuretic peptides measured in patients with cardio-vascular disease may ...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章,评审
doi:10.1515/CCLM.2011.686
更新日期:2011-08-26 00:00:00
abstract:BACKGROUND:Rivaroxaban, a direct Xa inhibitor, is one of the new oral antithrombotic agents for which laboratory monitoring is thought to be unnecessary in most cases due to predictable pharmacokinetics. Circumstances are conceivable, however, in which reliable laboratory testing of Rivaroxaban is desirable. The aim of...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/cclm-2012-0055
更新日期:2012-10-01 00:00:00
abstract::This document summarizes the steps in development of a new IFCC Master Program and outlines some of the ways the IFCC would assist in setting up such a regional Program. This is intended to be of assistance to those who wish to embark on such an endeavour. ...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/CCLM.2003.212
更新日期:2003-10-01 00:00:00
abstract:BACKGROUND:The identification of human mitochondrial DNA (mtDNA) sequence variations, especially single nucleotide polymorphisms (SNPs), is important for many applications. The PCR-ligase detection reaction (LDR) method can reduce false-positives and eliminate the need for both post-PCR and post-ligation purifications ...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/CCLM.2010.097
更新日期:2010-04-01 00:00:00
abstract:BACKGROUND:Procalcitonin (PCT) is increasingly being used for the diagnostic and prognostic work up of patients with suspected infections in the emergency department (ED). Recently, B·R·A·H·M·S PCT direct, the first high sensitive point-of-care test (POCT), has been developed for fast PCT measurement on capillary or ve...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章,多中心研究
doi:10.1515/cclm-2015-0437
更新日期:2016-04-01 00:00:00
abstract::The aim of this work was to assess the diagnostic value of anti-CCP-3 and anti-CCP-2 for the diagnosis of rheumatoid arthritis (RA) and determine whether anti-CCP-3 more accurately identifies patients with rheumatoid arthritis than anti-CCP-2. PubMed and CNKI databases were searched for studies published in English an...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章,meta分析
doi:10.1515/cclm-2013-0798
更新日期:2014-06-01 00:00:00
abstract:BACKGROUND:Tests for fecal calprotectin are usually either enzyme-linked immunosorbent assays (ELISA) or a time-resolved fluorimetric immunoassay (TRFIA). These time-consuming tests are performed only once every 1 or 2 weeks. Before the results of the tests are known most patients have already undergone colonoscopy. A ...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/cclm-2011-0855
更新日期:2012-01-13 00:00:00
abstract:BACKGROUND:Linezolid is the first synthetic compound of a new group of antimicrobials, the oxazolidinones, which inhibit protein synthesis. It shows a broad spectrum of activity against Gram positive organisms. With respect to its pharmacokinetics, linezolid shows a relatively high volume of distribution and good penet...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/CCLM.2010.078
更新日期:2010-03-01 00:00:00
abstract::The aim of this study was to clarify the effects of anti-dsDNA antibodies on the titer and the nuclear staining pattern(s) in a fluorescent antinuclear antibody (FANA) assay using HEp-2 cells. Anti-dsDNA derived from 14 patients with systemic lupus erythematosus (SLE) was individually affinity-purified. The anti-dsDNA...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/CCLM.2002.009
更新日期:2002-01-01 00:00:00
abstract::This review presents an overview of current research on the use of capillary electrophoretic techniques for the analysis of drugs in biological matrices. The discussion focuses on the applicability of the methods for the identification of unknown toxic compounds, which is defined as systematic toxicological analysis (...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章,评审
doi:10.1515/CCLM.2003.117
更新日期:2003-06-01 00:00:00
abstract:BACKGROUND:Gastrointestinal toxicity is the principal toxicity of chemoradiation in the treatment of rectal carcinoma. The assessment of this toxicity still relies mostly on the symptoms reported by the patient. METHODS:Plasma citrulline, serum neopterin and urinary neopterin were followed weekly in 49 patients with r...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/cclm-2015-0326
更新日期:2016-02-01 00:00:00
abstract:BACKGROUND:The basic helix-loop-helix transcription factor HAND1 is essential for cardiac development and structural remodeling, and mutations in HAND1 have been causally linked to various congenital heart diseases. However, whether genetically compromised HAND1 predisposes to dilated cardiomyopathy (DCM) in humans rem...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/cclm-2015-0766
更新日期:2016-07-01 00:00:00
abstract::Venous blood sampling (phlebotomy) is the most common invasive procedure performed in patient care. Guidelines on the correct practice of phlebotomy are available, including the H3-A6 guideline issued by the Clinical Laboratory Standards Institute (CLSI). As the quality of practices and procedures related to venous bl...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/cclm-2015-1089
更新日期:2016-07-01 00:00:00
abstract:BACKGROUND:The immunoglobulin superfamily receptor translocation-associated 2 (IRTA2) gene encodes both membrane and secreted forms of the B-cell differentiation antigen (also identified as FcRH5). The membrane form is highly expressed on the surface of hairy cell leukemia (HCL) cells from patients. This study aimed to...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/CCLM.2006.115
更新日期:2006-01-01 00:00:00
abstract::There is no comprehensive study on the stability of coagulation analytes in plasma. We therefore determined the influence of storage time and temperature on prothrombin time, activated partial thromboplastin time, thrombin time, fibrinogen, factors V and VIII, antithrombin III, protein C and S in plasma from 20 health...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/CCLM.1998.077
更新日期:1998-06-01 00:00:00
abstract::Haemophilia A is the most common inherited bleeding disorder caused by defects in the F8C gene that encodes coagulation factor VIII. This X-linked recessive disorder occurs in approximately 1:5000 males. Haemophilia A is diagnosed based on normal prothrombin time, altered activated partial thromboplastin time and redu...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章,评审
doi:10.1515/CCLM.2007.093
更新日期:2007-01-01 00:00:00
abstract:BACKGROUND:Despite remarkable advances in technology and laboratory automation, results of laboratory testing still suffer from a high degree of preanalytical variability. Although there is no definitive evidence, the use of small-gauge needles for venipuncture is usually discouraged to reduce the chance of producing u...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/CCLM.2006.172
更新日期:2006-01-01 00:00:00
abstract:BACKGROUND:Thrombopoietin (TPO), a growth factor primarily involved in regulating thrombopoiesis, has been recently implicated in the pathogenesis of sepsis. TPO levels are, indeed, greatly increased in patients with sepsis compared to control subjects, and correlate with sepsis severity. The aim of this study was to e...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章,多中心研究
doi:10.1515/cclm-2014-0219
更新日期:2014-10-01 00:00:00
abstract:BACKGROUND:Angiotensin II is produced primarily by angiotensin I-converting enzyme (ACE) within atherosclerotic lesions and ACE level in plaques correlates with the severity of vessel wall damage. Therefore, we investigated the possible association of ACE gene insertion/deletion (I/D) polymorphism and the severity of a...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/CCLM.2008.101
更新日期:2008-01-01 00:00:00
abstract::It is well-established that more than 8% of patients examined for vitamin B12 deficiency unexpectedly have increased plasma levels of the vitamin, but so far there are no guidelines for the clinical interpretation of such findings. In this review, we summarise known associations between high plasma cobalamin and disea...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章,评审
doi:10.1515/cclm-2012-0545
更新日期:2013-03-01 00:00:00
abstract:BACKGROUND:The objective of this study was to examine the diagnostic accuracy of high-sensitivity cardiac troponin T (hs-cTnT) for acute myocardial infarction (AMI) in patients with renal insufficiency, since this population has a high incidence of non-AMI elevations of hs-cTnT. METHODS:In this prospective study, we e...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/cclm-2014-0715
更新日期:2015-04-01 00:00:00
abstract:BACKGROUND:Accurate and early diagnosis of tuberculosis (TB) is of major importance in the management and control of TB. Because the conventional bacteriological diagnosis of TB has several limitations, nucleic acid amplification (NAA) tests have emerged as promising alternatives. A potential problem with NAA tests is ...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/CCLM.2010.296
更新日期:2010-10-01 00:00:00
abstract::The aim of the study was to evaluate the clinical efficiency of soluble transferrin receptor and transferrin receptor-ferritin index (sTfR/logF) in the diagnosis of iron deficiency anemia, as well as the differential diagnosis of iron deficiency anemia and anemia in rheumatoid arthritis. The study included 96 patients...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 临床试验,杂志文章
doi:10.1515/CCLM.2005.056
更新日期:2005-01-01 00:00:00
abstract:BACKGROUND:Cigarette smoking, a cardiovascular risk factor leading to oxygen free radical formation, is involved in the development of serious pathological conditions. On the other hand, a healthy diet and adequate supplementation can help prevent many diseases. The aim of our study was to evaluate in healthy light smo...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/CCLM.2006.084
更新日期:2006-01-01 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::Background Biochemical bone turnover markers (BTM) are useful tools to assess bone remodeling at the cellular level. N-terminal propeptide of type I procollagen (PINP) has been recommended as a reference marker for bone formation in research studies. Methods We describe the results of a multicenter study for routine c...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章,多中心研究
doi:10.1515/cclm-2019-0174
更新日期:2019-09-25 00:00:00
abstract::A body of evidence has been accumulated to demonstrate that current practice is not sufficiently safe for several stages of central laboratory testing. In particular, while analytical and perianalytical steps that take place within the laboratory are subjected to quality control procedures, this is not the case for se...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章,评审
doi:10.1515/CCLM.2006.136
更新日期:2006-01-01 00:00:00
abstract:BACKGROUND:Quantification of glycated hemoglobin (HbA1c) is a challenge in patients with hemoglobin (Hb) variants. We evaluated the impact of various Hb variants on five routine HbA1c assays by comparing with the IFCC reference measurement procedure (RMP). METHODS:Whole blood samples showing warning flags or no result...
journal_title:Clinical chemistry and laboratory medicine
pub_type: 杂志文章
doi:10.1515/cclm-2016-0865
更新日期:2017-07-26 00:00:00