Abstract：
OBJECTIVES:The current study aimed at the rapid identification of the copy number of α-globin genes for the diagnosis of α-thalassemia. DESIGN AND METHODS:To identify the copy number of α-globin genes in α-thalassemia, we developed a novel method using a multiplex polymerase chain reaction (PCR) in combination with the CE analysis. RESULTS:The proposed method provides a rapid detection of the common α-globin gene deletions. Sixty-six patients with α-thalassemia and 46 normal controls were included in the present study. The obtained results showed good correlation with those obtained by gap PCR. Moreover, a low amount of maternal cell contamination in the fetus specimen for the prenatal diagnosis of hemoglobin Barts hydrops fetalis as well as the rare multiplicated α-globin genes can be identified using this method. CONCLUSION:This method provides a convenient and efficient tool for the rapid identification of the copy number of α-globin genes in α-thalassemia and the individuals with α-globin gene multiplication.
journal_name
Clin Biochemjournal_title
Clinical biochemistryauthors
Liao YM,Lin SK,Liu TC,Chiou SS,Lu HC,Kao CF,Chang JGdoi
10.1016/j.clinbiochem.2012.02.006subject
Has Abstractpub_date
2012-07-01 00:00:00pages
798-805issue
10-11eissn
0009-9120issn
1873-2933pii
S0009-9120(12)00083-5journal_volume
45pub_type
杂志文章abstract：BACKGROUND:Currently, 20 IU/L is the accepted sensitivity of over-the-counter (OTC) hCG pregnancy tests, and the only sensitivity permitted for point of care (POC) tests. These sensitivity limitations cause significant numbers of false-negative tests, which mislead women and cause them to avoid precautions needed to av...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2008.09.107
更新日期：2009-02-01 00:00:00
abstract：:Collagen, the most abundant protein of the mammalian body, is specifically degraded by collagenase. Collagenase activity and subsequent collagen degradation are the main aspects of essential biological processes such as bone remodeling, tissue repair and wound healing. Measurement of collagenase activity is of interes...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/s0009-9120(05)80002-5
更新日期：1991-12-01 00:00:00
abstract：:Drug therapy may produce toxicity. Patient individuality or drug interactions account for many cases of poisoning, but other factors such as genetic predisposition, drug contamination or human error are also known causes. Examples of various types of drug poisoning are given, illustrating the role of the clinical chem...
journal_title：Clinical biochemistry
pub_type： 杂志文章,评审
doi：10.1016/0009-9120(90)90507-q
更新日期：1990-02-01 00:00:00
abstract：:Unexpected differences in clinical and biochemical findings in two brothers occupationally exposed to the same source of lead for dissimilar lengths of time are presented. Only the brother with the shorter period of lead exposure was anemic and afflicted by nausea, vomiting, abdominal colic and arthralgia. His urinary...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/s0009-9120(85)80090-4
更新日期：1985-04-01 00:00:00
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:Although monitoring of cyclosporin (CsA) is standard clinical practice postrenal transplantation, mycophenolic acid (MPA) concentrations are not routinely measured. There is evidence that a relationship exists between MPA area under the concentration-time curve (AUC) and rejection. In this study, a retrospec...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/s0009-9120(00)00196-x
更新日期：2001-02-01 00:00:00
abstract：OBJECTIVES:The aim of the present study was to establish the range of chitotriosidase (CT) activity in normal individuals, patients with Gaucher disease (GD) and Niemann-Pick disease (NPD), types A or B. The kinetics of CT in these three groups was also investigated. DESIGN AND METHODS:CT activity, as well as Km, Vmax...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2004.06.008
更新日期：2004-10-01 00:00:00
abstract：OBJECTIVES:To evaluate the results of oxygen consumption measurement in lymphocytes for the diagnosis and treatment monitoring of pediatric patients with oxidative phosphorylation diseases. DESIGN AND METHODS:Twenty-four children with an oxidative phosphorylation disease were studied. Results were compared with those ...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/s0009-9120(00)00137-5
更新日期：2000-08-01 00:00:00
abstract：:This retrospective multicenter study in patients with chronic myeloid leukemia in chronic phase was undertaken to confirm the clinical relevance of imatinib plasma concentrations monitoring in daily practice. Forty-one patients, with 47 imatinib plasma measurements, were analyzed during treatment with imatinib given a...
journal_title：Clinical biochemistry
pub_type： 杂志文章,多中心研究
doi：10.1016/j.clinbiochem.2016.12.006
更新日期：2017-05-01 00:00:00
abstract：:We compared results of urine drug analysis with clinical data and history to test the usefulness of peripartum drug screening and to establish guidelines for optimal testing. Urine from 28 mothers and 52 babies was analysed. Drugs not suspected by history were found in 10 mothers and six babies. Results assisted in th...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/s0009-9120(88)80113-9
更新日期：1988-01-01 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：OBJECTIVES:To ascertain the effects of eating on plasma antioxidant capacity in patients with liver disease. DESIGN AND METHODS:Eighteen cirrhotic patients were compared to 18 age and sex-matched controls. TRAP was measured by a fluorometric assay after a 12 h fast, and 60, 120, and 180 min after the study participant...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/s0009-9120(99)00039-9
更新日期：1999-08-01 00:00:00
abstract：BACKGROUND:Increased levels of circulating endostatin predicts cardiovascular morbidity and impaired kidney function in the general population. The utility of endostatin as a risk marker for mortality in the emergency department (ED) has not been reported. AIM:Our main aim was to study the association between plasma e...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2019.10.004
更新日期：2020-01-01 00:00:00
abstract：:A procedure for the quantitative determination of oxalate in urine suitable for use in clinical laboratories is described. Oxalate is extracted from urine and subsequently assayed by measuring the amount of hydrogen peroxide produced in an oxidation reaction catalyzed by oxalate oxidase. The reproducibility of the met...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/s0009-9120(84)90710-0
更新日期：1984-12-01 00:00:00
abstract：OBJECTIVES:Pregnancy Associated Plasma Protein A (PAPP-A)-derived N- and C-terminal fragments of IGF-binding protein-4 (NT- and CT-IGFBP-4) released from vulnerable atherosclerotic plaques are proposed to be used for cardiovascular risk assessment. DESIGN AND METHODS:NT- and CT-IGFBP-4 were measured by novel immunoass...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2011.12.030
更新日期：2012-05-01 00:00:00
abstract：:A spectrophotometric study was carried out for three proteins assays when modification of their serum procedures using bromcresol green, bromcresol purple and biuret reagents were applied to the determinations of total proteins and albumin in cerebrospinal fluids. A novel concentration device wherein the sample itself...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/0009-9120(81)90165-x
更新日期：1981-02-01 00:00:00
abstract：OBJECTIVE:To statistically compare and evaluate commonly used methods of estimating reference intervals and to determine which method is best based on characteristics of the distribution of various data sets. DESIGN AND METHODS:Three approaches for estimating reference intervals, i.e. parametric, non-parametric, and r...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2017.07.005
更新日期：2017-12-01 00:00:00
abstract：:Several clinical entities are associated with disorders of fatty acid oxidation or transfer across the inner mitochondrial membrane. Over 40 cases of the primary carnitine deficiency syndrome have been reported to date and various subtypes have been characterized. This represents a large clinical spectrum. The deficie...
journal_title：Clinical biochemistry
pub_type： 杂志文章,评审
doi：10.1016/s0009-9120(87)80090-5
更新日期：1987-02-01 00:00:00
abstract：:We assayed serum levels of certain enzymes and tumor markers in patients after transcatheter arterial embolization (TAE) to evaluate the effectiveness of this treatment. Twenty patients had hepatocellular carcinoma and two patients had metastases to the liver from colon cancer. Assays were first done immediately after...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/0009-9120(87)90011-7
更新日期：1987-12-01 00:00:00
abstract：OBJECTIVES:The fibroblast growth factor receptor 3 gene (FGFR3) plays a critical role in cartilage growth-plate differentiation and bony development. It has been shown that 97% of patients with achondroplasia have a G to A transition mutation at position 1138 (c.1138 G>A) of codon 380 of the FGFR3 gene. DESIGN AND MET...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2007.08.014
更新日期：2008-02-01 00:00:00
abstract：BACKGROUND:Genetic variations of UDP-glucuronyltransferase 1A1 (UGT1A1) influence the concentration of serum bilirubin. We investigated the association of four common polymorphisms including UGT1A1-53(TA)(n), and common haplotypes of the UGT1A1 gene with bilirubin levels in 218 Caucasian volunteers. METHODS:Total bili...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2009.08.011
更新日期：2009-11-01 00:00:00
abstract：:We evaluated a method for quantifying bone isoenzyme of alkaline phosphatase (ALP) which utilizes wheat-germ lectin to precipitate this fraction. In precision studies, CVs ranged from 3.2 to 11.4% (within-day) and from 3.7 to 11.5% (day-to-day). The assay procedure was linear to 1100 U/L and was easily adapted to auto...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/s0009-9120(05)80017-7
更新日期：1991-10-01 00:00:00
abstract：OBJECTIVE:We used single-strand conformational polymorphism (SSCP). To screen for mutations/polymorphisms in exon 4 of the apolipoprotein C III in 45 patients with hypertriglyceridemia and 46 control individuals, single-strand conformational polymorphism was investigated using restriction endonuclease and amplification...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/0009-9120(94)00083-8
更新日期：1995-06-01 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：:Erythrocyte morphology, kinematic viscosity, and membrane lipid composition have not been well documented in heterozygous hypobetalipoproteinemia (HBL). In our study of nine subjects with HBL from two kindreds, three presented with schistocytes (3-6%) while two of them also showed acanthocytosis (25-35%) on their peri...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/s0009-9120(88)80020-1
更新日期：1988-12-01 00:00:00
abstract：OBJECTIVES:We previously described a panel of four cytokines biomarkers in knee synovial fluid for acute knee pain associated with meniscal pathology. The cytokine biomarkers included interferon gamma (IFN-gamma), interleukin 6 (IL-6), monocyte chemotactic protein 1 (MCP-1), and macrophage inflammatory protein-1 beta (...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2010.04.069
更新日期：2010-07-01 00:00:00
abstract：OBJECTIVES:We tested the application of bioinformatic algorithms in studying the metabolomic profiles of neonatal urine samples with clinical evidence of severe asphyxia at birth and subsequent neurodevelopmental handicap. DESIGN AND METHODS:The clinical outcomes of 256 newborns that required direct admission to neona...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2006.01.006
更新日期：2006-03-01 00:00:00
abstract：:Immunoglobulin levels are elevated in the acquired immune deficiency syndrome (AIDS) and one class, IgA, has been suggested as a marker of disease progression. IgA is composed of two subclasses, IgA1 and IgA2; circulating IgA1 is roughly 85% of the total in healthy individuals. We have attempted to determine if the su...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/0009-9120(91)80020-4
更新日期：1991-06-01 00:00:00
abstract：OBJECTIVES:: To test if circulating forms of the soluble urokinase-type plasminogen activator receptor (suPAR) are potential biomarkers of plaque vulnerability. DESIGN AND METHODS:: Plasma concentrations of suPAR(I-III), suPAR(II-III) and uPAR(I) were measured by time-resolved fluorescence immunoassays in Caucasian pa...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2009.09.028
更新日期：2010-01-01 00:00:00
abstract：OBJECTIVES:This study explored the relationship between oxidative stress biomarkers and stability of carotid plaque. We decided to analyze the broad range of parameters describing oxidative stress in patients with carotid stenosis. DESIGN AND METHODS:124 consecutive patients undergoing carotid endarterectomy were enro...
journal_title：Clinical biochemistry
pub_type： 杂志文章
doi：10.1016/j.clinbiochem.2013.05.057
更新日期：2013-08-01 00:00:00
