Abstract：
OBJECTIVES:High-resolution melting analysis has been validated for screening several genes of clinical significance. We evaluated whether it would be useful for detecting mutations in the LDL receptor gene (LDLR). DESIGN AND METHODS:We analysed 60 samples heterozygous for different LDLR sequence variants, and compared the melting curves to those of the corresponding homozygous normal amplicons to assess whether they would be detected in a mutation scanning screen using melting analysis. RESULTS:Although six mutations in exon 4 did not yield usable melting data, 96% (52/54) of the other variants were detected by the melting analysis, while two variants were poorly resolved. CONCLUSIONS:Melting analysis is a rapid and sensitive mutation scanning technique, but is not suitable for some GC-rich amplicons such as LDLR exon 4, or exons with high frequencies of benign polymorphisms which would require follow-up DNA sequencing. We developed a successful strategy which combines melting analysis with direct sequencing of problematic amplicons.
journal_name
Clin Biochemjournal_title
Clinical biochemistryauthors
Laurie AD,George PMdoi
10.1016/j.clinbiochem.2008.11.015subject
Has Abstractpub_date
2009-04-01 00:00:00pages
528-35issue
6eissn
0009-9120issn
1873-2933pii
S0009-9120(08)00602-4journal_volume
42pub_type
杂志文章abstract：OBJECTIVES:Accurate measurement of IgG subclass (IgGSc) levels are essential to aid in the diagnosis of disease states such as primary immunodeficiencies. However, there is no single standardisation of nephelometric and turbidimetric assays for these analytes and two reference materials have been utilised. We expand on...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2013.07.014
更新日期：2013-11-01 00:00:00
abstract：OBJECTIVES:The aim was to study the influence of sampling time, food intake and sleep on tests used to screen for and monitor conditions of iron deficiency and overload. DESIGN AND METHODS:The 24 h variations of iron, transferrin, transferrin saturation (TS) and ferritin were studied in seven healthy individuals durin...
journal_title：Clinical biochemistry
pub_type： 临床试验,杂志文章
doi：10.1016/j.clinbiochem.2010.08.023
更新日期：2010-11-01 00:00:00
abstract：OBJECTIVE:To evaluate clinical value of oxidized lipoprotein(a) [ox-Lp(a)] levels. DESIGN AND METHODS:Ox-Lp(a) were measured by 2 ELISAs using antibodies against ox-Lp(a) [ox-Lp(a)1] or oxidized low-density lipoprotein [ox-Lp(a)2], and studied in 161 acute coronary syndromes (ACS) patients, 114 stable coronary artery ...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2009.12.017
更新日期：2010-04-01 00:00:00
abstract：:Iodine deficiency (ID) is associated with increased prevalence of goiter, increased risk for neurodevelopmental disorders, and is the world's leading cause of intellectual deficits. Iodine nutritional status of a population is assessed by measurements of urinary iodine concentrations which are also used to define, ind...
journal_title：Clinical biochemistry
pub_type： 杂志文章,评审
doi：10.1016/s0009-9120(02)00406-x
更新日期：2002-11-01 00:00:00
abstract：OBJECTIVE:Previous studies suggested that decreased serum vaspin levels were associated with coronary artery disease (CAD). The present study aimed to investigate the association between plasma vaspin levels and different states of CAD. DESIGN AND METHODS:A total of 162 patients with coronary angiography (CAG) proved ...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2013.06.028
更新日期：2013-10-01 00:00:00
abstract：:A highly specific enzyme-linked "sandwich" immunoassay was developed for determining cardiac myosin light chain II (MLC II) in serum by using an anticardiac MLC II monoclonal antibody and a solid phase consisting of glass rods coated with another monoclonal antibody. We can detect as little as 0.2 ng of cardiac MLC II...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/0009-9120(90)80042-h
更新日期：1990-12-01 00:00:00
abstract：OBJECTIVES:To have a reliable diagnostic test, the influence of urine pH on the determination of the total activity of N-acetyl-beta-D-glucosaminidase (NAG) and NAG isoenzyme activities was studied. DESIGN AND METHODS:After ultrafiltration and dialysis of the acidic and alkaline urines, the B, A, and A2 forms of NAG w...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2005.01.002
更新日期：2005-04-01 00:00:00
abstract：BACKGROUND:According to the prevailing theory about the genetic background to lactose intolerance, there are three genotypes but only two adult physiological phenotypes: lactase persistence in individuals with the CT and TT genotypes and lactase non-persistence in individuals with the CC genotype. However, analysis of ...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2015.11.001
更新日期：2016-02-01 00:00:00
abstract：OBJECTIVE:MicroRNA-331 (miR-331) has shown regulatory activity against several genes whose expression has been claimed to be deregulated in breast tumors, including that of epidermal growth factor receptor 2 (HER2). Herein, the clinical value of miR-331 expression was investigated by analyzing its levels in breast beni...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2018.07.008
更新日期：2018-09-01 00:00:00
abstract：OBJECTIVE:We examined the association of plasma apolipoprotein (apoB) B-48, remnant-like particle (RLP)-cholesterol and non-HDL cholesterol concentrations with apoB-100 kinetics in overweight-obese men. METHODS AND RESULTS:Very-low density lipoprotein (VLDL), intermediate-density lipoprotein (IDL) and low-density lipo...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2005.05.009
更新日期：2005-09-01 00:00:00
abstract：BACKGROUND:The gold standard test for the diagnosis of urinary tract infection is bacterial culture. However, urine cultures are labor intensive and costly. Furthermore, since results take 1-2 days many patients are treated presumptively prior to culture results being known. METHODS:We evaluated the Sysmex UF-1000i fo...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2013.03.005
更新日期：2013-06-01 00:00:00
abstract：BACKGROUND:High levels of intact and cleaved forms of the urokinase-type plasminogen activator receptor (uPAR) in both tissue and blood are associated with poor survival in several cancer diseases. The prognostic significance of uPAR in cholangiocarcinoma is unknown. The aims of this study were to determine if pre-trea...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2014.01.030
更新日期：2014-05-01 00:00:00
abstract：OBJECTIVES:The aim of our study was to examine the influence of atorvastatin on lipid parameters, particularly on HDL, and on the activity of LCAT and CETP and how they affect the activity of the HDL-associated antioxidant enzyme paraoxonase. DESIGN AND METHODS:Thirty-three patients with types II.a and II.b primary hy...
journal_title：Clinical biochemistry
pub_type： 临床试验,杂志文章
doi：10.1016/j.clinbiochem.2006.05.016
更新日期：2007-01-01 00:00:00
abstract：OBJECTIVES:To assess the relationship between lipoprotein (a) [Lp (a)] and lipoprotein oxidation in patients with coronary artery disease (CAD). DESIGN AND METHODS:Oxidation of apolipoprotein (apo)B-containing lipoproteins, vitamin E, carotenoids, lipid-lipoprotein levels were determined in 171 CAD and 70 non-CAD subj...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/s0009-9120(00)00079-5
更新日期：2000-06-01 00:00:00
abstract：OBJECTIVES:We determined the frequencies of apolipoprotein E (apo E) gene alleles and examined the association between apo E polymorphism and lipid parameters in a sample of the Tunisian population. DESIGN AND METHODS:Apo E polymorphism was investigated using PCR, and plasma lipid parameters were measured in 122 men a...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2006.04.018
更新日期：2006-08-01 00:00:00
abstract：:Enzymic fluorimetric methods are described for the determination of primary bile acids and of chenodeoxycholic acid (CDC) and cholic acid (C) in serum. Bile acids are extracted from 0.3 mL of serum in a simple 5-min step with use of Sep-Pak C cartridges. Total primary bile acids are measured by an equilibrium techniqu...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/s0009-9120(84)90145-0
更新日期：1984-08-01 00:00:00
abstract：:Preparation of (14C) Pro labeled protocollagen and requirements for its hydroxylation by PPH was investigated. Protocollagen can be prepared by centrifugation of the biological material at 15.000 X g. Substances in current use, viz catalase, bovine serum albumin and dithiothreitol were found unnecessary under the hydr...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/s0009-9120(76)80072-0
更新日期：1976-12-01 00:00:00
abstract：OBJECTIVES:Mucopolysaccharidoses (MPSs) are a group of rare, inherited metabolic disorders which result from the lack of one of the lysosomal enzymes responsible for the degradation of glycosaminoglycans. Early recognition of MPS is important as it enables prompt implementation of enzyme replacement therapy (ERT). Dipe...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2015.11.011
更新日期：2016-04-01 00:00:00
abstract：OBJECTIVES:It has recently been suggested that when adjusting doses of cyclosporine (CsA), determining its concentration in blood samples taken 2 h postdose (C(2)) is more clinically beneficial than using the predose concentration (C(0)). We determined C(0) and C(2) concentrations of CsA and their metabolites in sample...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/s0009-9120(00)00147-8
更新日期：2000-07-01 00:00:00
abstract：:Proteomics, the analysis of expressed proteins, has been an important developing area of research for the past two decades [Anderson, NG, Anderson, NL. Twenty years of two-dimensional electrophoresis: past, present and future. Electrophoresis 1996;17:443-453]. Advances in technology have led to a rapid increase in app...
journal_title：Clinical biochemistry
pub_type： 杂志文章,评审
doi：10.1016/j.clinbiochem.2004.09.002
更新日期：2004-11-01 00:00:00
abstract：:An affinity chromatographic method (AC) was compared with ion exchange chromatography (IEC) for determination of glycated hemoglobin (gHb). In vitro, increasing glucose concentration produced no change on AC-determined gHb. gHb measurement by AC was highly correlated with mean blood glucose (r = 0.96). Mean values of ...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/s0009-9120(86)80010-8
更新日期：1986-12-01 00:00:00
abstract：:The purpose of this report is to evaluate whether a new, simple, non-invasive method for chymotrypsin measurement in stools is useful for the diagnosis of exocrine pancreatic insufficiency in cystic fibrosis (CF). A hundred children aged from 2 months to 12 years were tested: 50 children had been admitted for chronic ...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/s0009-9120(85)80046-1
更新日期：1985-08-01 00:00:00
abstract：:1. When a malignant growth is developing in a patient, one often observes in the serum an increased activity of serum enzymes due to necrosis and increased membrane permeability caused by the altered metabolism of malignant cells. Conversely, I considered it interesting to check the enzymes of the malate-aspartate sh...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/s0009-9120(77)92378-5
更新日期：1977-08-01 00:00:00
abstract：OBJECTIVE:Develop a simple LC-MS-MS method for determination of 25-hydroxymetabolites of vitamin D2 and D3 in serum. DESIGN AND METHODS:0.1 mL serum was mixed with 0.3 mL deproteinizing mixture containing two deuterated internal standards. Two LC-MS-MS systems were used: Waters Premier with an ESI source and a Hypersi...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2011.08.1134
更新日期：2011-11-01 00:00:00
abstract：OBJECTIVE:The immune-inflammatory system has been implicated in the pathogenesis of diabetic nephropathy; however, many of the mechanisms involved remain unclear. Chitotriosidase enzyme is an active human chitinase and a major protein product of activated macrophages. Although playing an important role in innate and ac...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2015.11.009
更新日期：2016-04-01 00:00:00
abstract：:The Laser Nephelometer PDQTM (Hyland Division, Travenol Laboratories Inc.) and the Abbott Bichromatic Analyser 100 (Abbott Laboratories) were compared with a radial immunodiffusion method. Seventy-eight serum specimens collected during routine blood testing were aliquoted and quantitated by the three procedures descri...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/s0009-9120(78)90126-1
更新日期：1978-06-01 00:00:00
abstract：OBJECTIVES:Personalized ranges of liver fibrosis serum biomarkers such as FibroTest or hyaluronic acid could be used for early detection of fibrotic changes in patients with progressive chronic liver disease. Our aim was to generate reliable biological variation estimates for these two biomarkers with confidence interv...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2015.03.020
更新日期：2015-07-01 00:00:00
abstract：OBJECTIVES:Effects of treatment with dehydroepiandrosterone (DHEA) on oxidative energy metabolism in rat liver and brain mitochondria were examined. DESIGN AND METHODS:Young adult rats were administered DHEA (0.1, 0.2, 1.0 or 2.0 mg/kg body weight) by subcutaneous route for 7 consecutive days. RESULTS:DHEA treatment ...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2006.08.014
更新日期：2007-01-01 00:00:00
abstract：AIM:Luciferase immunoprecipitation (LIPS) assays show good sensitivity and specificity in testing islet specific autoantibodies for diagnosis of type 1 diabetes (T1D). However, there are currently no LIPS assays available for detecting proinsulin/insulin autoantibody (IAA) previously. We here developed a LIPS assay to ...
journal_title：Clinical biochemistry
pub_type： 临床试验,杂志文章
doi：10.1016/j.clinbiochem.2018.02.011
更新日期：2018-04-01 00:00:00
abstract：:Autosomal dominant olivopontocerebellar degeneration was evaluated in a family numbering 414 living members. Urine samples were obtained from 5 affected and 5 unaffected not at-risk family members after 4 days on a synthetic diet. 159 urine vapor constituents were measured by gas-liquid and ion-exchange chromatography...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/s0009-9120(75)93752-2
更新日期：1975-12-01 00:00:00
