当前位置： SCI文献检索 > CLINICAL BIOCHEMISTRY期刊下所有文献 > Genotyping of the G1138A mutation of the FGFR3 gene in patients with achondroplasia using high-resolution melting analysis.

Genotyping of the G1138A mutation of the FGFR3 gene in patients with achondroplasia using high-resolution melting analysis.

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 METHODS:Exon 8 of the FGFR3 gene was analyzed in 40 patients with achondroplasia, as well as in 50 control individuals for the presence of the c.1138G>A variant using melting curve analysis with a high-resolution melting instrument (HR-1). RESULTS:The high-resolution melting curve analysis successfully genotyped the c.1138G>A mutation in exon 8 of the FGFR3 gene in all 40 patients with achondroplasia without the need of further assays. The technique had a sensitivity and specificity of 100%. CONCLUSION:High-resolution melting analysis is a simple, rapid, and sensitive one tube assay for genotyping the FGFR3 gene. The technique is a low cost high-throughput FGFR3 screening assay.

journal_name

Clin Biochem

journal_title

Clinical biochemistry

authors

Hung CC,Lee CN,Chang CH,Jong YJ,Chen CP,Hsieh WS,Su YN,Lin WL

doi

10.1016/j.clinbiochem.2007.08.014

subject

Has Abstract

pub_date

2008-02-01 00:00:00

pages

162-6

issue

3

eissn

0009-9120

issn

1873-2933

pii

S0009-9120(07)00348-7

journal_volume

41

pub_type

杂志文章

相关文献

CLINICAL BIOCHEMISTRY文献大全
  • Polymorphisms in the long non-coding RNA CDKN2B-AS1 may contribute to higher systolic blood pressure levels in hypertensive patients.

    abstract：OBJECTIVES:Hypertension (HT) is a complex disorder influenced by both genetic and environmental factors. Recent genome-wide association studies have identified a major risk locus for atherosclerosis on chromosome 9p21.3. SNPs within the coding sequences of CDKN2A/B and the long non-coding RNA CDKN2B-AS1 could potential...

    journal_title：Clinical biochemistry

    pub_type： 杂志文章

    doi：10.1016/j.clinbiochem.2016.02.012

    authors： Bayoglu B,Yuksel H,Cakmak HA,Dirican A,Cengiz M

    更新日期：2016-07-01 00:00:00

  • Observed relationship between ratios HDL-cholesterol/total cholesterol and apolipoprotein A1/apolipoprotein B.

    abstract：:Epidemiological evidence suggests that the ratio HDL-cholesterol (HDL-C)/total cholesterol (TC) or apolipoprotein A1 (apo A1)/apolipoprotein B (apo B) are good indicators of coronary heart disease risk. In investigating the distribution of these ratios in the typical population served by our routine laboratory, we ana...

    journal_title：Clinical biochemistry

    pub_type： 杂志文章

    doi：10.1016/0009-9120(92)80004-z

    authors： Kuyl JM,Mendelsohn D

    更新日期：1992-10-01 00:00:00

  • Evaluation of the analytical performance of the Boehringer Mannheim Elecsys 2010 immunoanalyzer.

    abstract：OBJECTIVES:We evaluated the analytical performance of the Elecsys 2010 immunoanalyzer (Boehringer Mannheim Canada), which is based on a new detection technology, electrochemical luminescence. DESIGN AND METHODS:We used six representative assays from the initial launch menu of the instrument: thyroid stimulating hormon...

    journal_title：Clinical biochemistry

    pub_type： 杂志文章

    doi：10.1016/s0009-9120(98)00002-2

    authors： Forest JC,Massé J,Lane A

    更新日期：1998-03-01 00:00:00

  • Comparison of predose vs 2-h postdose blood metabolites/cyclosporine ratios in kidney and liver transplant patients.

    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

    authors： Fernández-Marmiesse A,Hermida J,Tutor JC

    更新日期：2000-07-01 00:00:00

  • Vitamins D and A can be successfully measured by LC-MS/MS in cord blood diluted plasma.

    abstract：OBJECTIVES:In widely used protocols for the collection and isolation of cord blood mononuclear cells, investigators are left with substantial volumes of diluted plasma which could be used for other measurements. The aim of this study was to ascertain the validity of umbilical cord blood (UCB) diluted plasma samples for...

    journal_title：Clinical biochemistry

    pub_type： 杂志文章

    doi：10.1016/j.clinbiochem.2015.04.014

    authors： Albarhani AA,Collier F,Greaves RF,Ponsonby AL,Allen KJ,Vuillermin PJ,Roche P,Clarke MW,BIS Steering Committee.

    更新日期：2015-11-01 00:00:00

  • Identification of apo- and holo-forms of ceruloplasmin in patients with Wilson's disease using native polyacrylamide gel electrophoresis.

    abstract：OBJECTIVES:To determine the serum ratio of holo-ceruloplasmin to total ceruloplasmin in patients with Wilson's disease (WD), we identified apo- and holo-forms of serum ceruloplasmin with native-PAGE electrophoresis. DESIGN AND METHODS:Serum obtained from nine patients with Wilson's disease was subjected to native-PAGE...

    journal_title：Clinical biochemistry

    pub_type： 杂志文章

    doi：10.1016/j.clinbiochem.2004.09.008

    authors： Hirano K,Ogihara T,Ogihara H,Hiroi M,Hasegawa M,Tamai H

    更新日期：2005-01-01 00:00:00

  • Predictors of inexplicable coronary artery spasm during coronary angiography in patients with stable angina--the role of intravascular oxidative stress.

    abstract：OBJECTIVE:This study was conducted to investigate the potential role of intravascular oxidative stress in inexplicable episodes of coronary artery spasm (CAS) during coronary angiography (CAG). DESIGN AND METHODS:Serial patients with stable angina scheduled for routine CAG were prospectively evaluated. Patients with c...

    journal_title：Clinical biochemistry

    pub_type： 杂志文章

    doi：10.1016/j.clinbiochem.2009.01.021

    authors： Leu HB,Lin WT,Lin CP,Wu TC,Lin SJ,Chen JW

    更新日期：2009-05-01 00:00:00

  • Simultaneous determination of fluoxetine and norfluoxetine in dried blood spots using high-performance liquid chromatography-tandem mass spectrometry.

    abstract：BACKGROUND:Therapeutic drug monitoring (TDM) of the widely prescribed antidepressant fluoxetine (FLU) is recommended in certain situations, such as occurrence of toxicity, inadequate response or suspect of poor adherence. Dried blood spot (DBS) sampling is an increasingly studied alternative for TDM, particularly for o...

    journal_title：Clinical biochemistry

    pub_type： 杂志文章

    doi：10.1016/j.clinbiochem.2017.10.002

    authors： da Silva ACC,Raasch JR,Vargas TG,Peteffi GP,Hahn RZ,Antunes MV,Perassolo MS,Linden R

    更新日期：2018-02-01 00:00:00

  • Optimizing RNA extraction yield from whole blood for microarray gene expression analysis.

    abstract：OBJECTIVES:Microarray analysis of gene expression profiles of blood leukocytes has many potential clinical and research applications. DESIGN AND METHODS:We used the PAXgene Blood RNA System to prepare RNA from the whole blood of normal volunteers using two incubation times followed by gene expression profiling using t...

    journal_title：Clinical biochemistry

    pub_type： 杂志文章

    doi：10.1016/j.clinbiochem.2004.03.013

    authors： Wang J,Robinson JF,Khan HM,Carter DE,McKinney J,Miskie BA,Hegele RA

    更新日期：2004-09-01 00:00:00

  • Type 1-prophospholipase A2 propeptide immunoreactivity is released from activated granulocytes.

    abstract：OBJECTIVE:To establish a ELISA assay to measure release of type 1-phospholipase A2 propeptide from activated granulocytes. Human type 1-prophospholipase A2 (1-proPLA2) is biosynthesized and stored as inactive zymogen. Activation involves tryptic-like cleavage at the N-terminus, with equimolar release of the heptapeptid...

    journal_title：Clinical biochemistry

    pub_type： 杂志文章

    doi：10.1016/0009-9120(94)00068-7

    authors： Rae D,Sumar N,Beechey-Newman N,Gudgeon M,Hermon-Taylor J

    更新日期：1995-02-01 00:00:00

  • Ethanolaminuria: a non-specific laboratory finding in the seriously ill infant.

    abstract：:Ethanolamine is a compound that is frequently seen in urinary amino acid analysis. Although there is a single report of increased ethanolamine excretion associated with a distinctive storage disease in two siblings, the significance of ethanolaminuria is not known. We measured urinary ethanolamine/creatinine ratios in...

    journal_title：Clinical biochemistry

    pub_type： 杂志文章

    doi：10.1016/s0009-9120(88)80084-5

    authors： Cole DE,Farag S,Dooley KC

    更新日期：1988-10-01 00:00:00

  • Interference of IgM paraproteins in the Olympus AU800 uric acid assay.

    abstract：INTRODUCTION:In the Olympus uric acid procedure, uric acid is converted by uricase to allantoin and hydrogen peroxide, which is reacted in a Trinder reaction to produce a chromophore read bichromatically at 520 and 660 nm. Repeated difficulty was encountered in obtaining uric acid results on samples from myeloma patien...

    journal_title：Clinical biochemistry

    pub_type： 杂志文章

    doi：10.1016/s0009-9120(98)00064-2

    authors： Langman LJ,Allen LC,Romaschin AD

    更新日期：1998-10-01 00:00:00

  • Diagnostic implications of enumerating and reporting beta fraction(s) for the detection of beta-migrating monoclonal immunoglobulins in serum protein electrophoresis.

    abstract：BACKGROUND:Modern serum protein electrophoresis (SPE) resolves serum proteins in 6 major fractions, splitting beta (B) into beta1 (B1) and beta2 (B2). Beta-migrating monoclonal immunoglobulins (B-MC) commonly integrate into normal-looking peak shape(s) but may increase the fraction value, forming the basis for reflex t...

    journal_title：Clinical biochemistry

    pub_type： 杂志文章

    doi：10.1016/j.clinbiochem.2018.01.021

    authors： Chan PC,Lem-Ragosnig B,Chen J

    更新日期：2018-03-01 00:00:00

  • Pathophysiology, clinics, diagnosis and treatment of heart involvement in carbon monoxide poisoning.

    abstract：:The toxicity of carbon monoxide has been recognized for long throughout history and is unquestionably the leading cause of unintentional poisoning deaths in the Western countries. The severity of poisoning is dependent upon environmental and human factor. The leading pathophysiological mechanism resides in the ability...

    journal_title：Clinical biochemistry

    pub_type： 杂志文章,评审

    doi：10.1016/j.clinbiochem.2012.06.004

    authors： Lippi G,Rastelli G,Meschi T,Borghi L,Cervellin G

    更新日期：2012-11-01 00:00:00

  • Pharmacokinetic, pharmacodynamic, and outcome investigations as the basis for mycophenolic acid therapeutic drug monitoring in renal and heart transplant patients.

    abstract：:Mycophenolate mofetil is widely used in combination with either cyclosporine or tacrolimus for rejection prophylaxis in renal and heart transplant patients. Although not monitored routinely nearly to the degree that other agents such as cyclosporine or tacrolimus, there is an expanding body of experimental evidence fo...

    journal_title：Clinical biochemistry

    pub_type： 杂志文章,评审

    doi：10.1016/s0009-9120(00)00184-3

    authors： Shaw LM,Korecka M,DeNofrio D,Brayman KL

    更新日期：2001-02-01 00:00:00

  • An insulin-dose error assessment grid: A new tool to evaluate glucose meter performance.

    abstract：OBJECTIVE:To develop a tool to assess the clinical accuracy of glucose meter performance using an insulin dosing protocol to assess the frequency and extent of error in insulin dose categories. METHODS:Retrospective comparison of 1815 glucose meter and central laboratory glucose results obtained from 1698 critically i...

    journal_title：Clinical biochemistry

    pub_type： 杂志文章

    doi：10.1016/j.clinbiochem.2019.06.001

    authors： Lyon ME,Lyon OAS,Tran NK,DuBois JA,Lyon AW

    更新日期：2019-08-01 00:00:00

  • APOC3 -482C>T polymorphism, circulating apolipoprotein C-III and smoking: interrelation and roles in predicting type-2 diabetes and coronary disease.

    abstract：OBJECTIVES:We determined the relationship of smoking status on APOC3 -482C>T polymorphism and apolipoprotein C-III (apoC-III) concentrations and the latter two parameters' influence on risk of diabetes and coronary heart disease (CHD). DESIGN AND METHODS:Prediction of incident cases was assessed at 5.5years' follow-up...

    journal_title：Clinical biochemistry

    pub_type： 杂志文章

    doi：10.1016/j.clinbiochem.2010.12.009

    authors： Onat A,Erginel-Unaltuna N,Coban N,Ciçek G,Yüksel H

    更新日期：2011-04-01 00:00:00

  • Correlation of endothelin 1 plasma levels with plasma antioxidant capacity in elderly patients treated for hypertension.

    abstract：UNLABELLED:Experimental studies confirmed that reactive oxygen species increase endothelin-1 (ET-1) synthesis, and modulate ET-1 signaling pathway resulting in vasoconstriction and vascular remodeling. The aim of this study was to evaluate the relationship between plasma ET-1 concentration and antioxidant status in pat...

    journal_title：Clinical biochemistry

    pub_type： 杂志文章

    doi：10.1016/j.clinbiochem.2008.11.002

    authors： Skalska AB,Pietrzycka A,Stepniewski M

    更新日期：2009-03-01 00:00:00

  • The effect of the mode of delivery on the maternal-neonatal erythrocyte membrane acetylcholinesterase activity.

    abstract：UNLABELLED:Free radical production and high catecholamine levels are implicated with the modulation of acetylcholinesterase (AChE) activity. OBJECTIVE:To investigate the effect of the mode of delivery on maternal-neonatal erythrocyte membrane AChE activity. SUBJECTS AND METHODS:Some women with normal pregnancy (N = 3...

    journal_title：Clinical biochemistry

    pub_type： 杂志文章

    doi：10.1016/j.clinbiochem.2008.04.005

    authors： Vlachos DG,Schulpis KH,Parthimos T,Mesogitis S,Vlachos GD,Partsinevelos GA,Antsaklis A,Tsakiris S

    更新日期：2008-07-01 00:00:00

  • Levels changes of blood leukocytes and intracellular signalling pathways in COPD patients with respect to smoking attitude.

    abstract：OBJECTIVES:To examine whether the proportions of blood leukocyte subsets are altered in COPD, and to assess the disturbances in signalling pathways in the leukocytes of COPD patients, with respect to smoking history. DESIGN AND METHODS:The study was performed at the Faculty of Pharmacy and Biochemistry and University ...

    journal_title：Clinical biochemistry

    pub_type： 杂志文章

    doi：10.1016/j.clinbiochem.2007.12.013

    authors： Rumora L,Milevoj L,Popović-Grle S,Barisić K,Cepelak I,Grubisić TZ

    更新日期：2008-04-01 00:00:00

  • Low expression of thiosulfate sulfurtransferase (rhodanese) predicts mortality in hemodialysis patients.

    abstract：OBJECTIVES:To test the hypothesis that impaired expression of the thiosulfate sulfurtransferase rhodanese is associated with oxidative stress and may predict mortality in hemodialysis patients. DESIGN AND METHODS:Sixty-two hemodialysis patients were investigated to determine protein and mRNA expression of rhodanese in...

    journal_title：Clinical biochemistry

    pub_type： 杂志文章

    doi：10.1016/j.clinbiochem.2009.08.005

    authors： Krueger K,Koch K,Jühling A,Tepel M,Scholze A

    更新日期：2010-01-01 00:00:00

  • Performance characteristics of six automated 25-hydroxyvitamin D assays: Mind your 3s and 2s.

    abstract：BACKGROUND:Measurement of 25(OH)D has evolved rapidly, with an increased number of high-throughput automated immunoassays becoming available in recent years. The aim of this study was to fully evaluate six commercially available automated 25(OH)D immunoassays, including 2 newly available (Beckman Coulter) and one recal...

    journal_title：Clinical biochemistry

    pub_type： 杂志文章

    doi：10.1016/j.clinbiochem.2015.08.005

    authors： Wyness SP,Straseski JA

    更新日期：2015-11-01 00:00:00

  • Medical errors: impact on clinical laboratories and other critical areas.

    abstract：:The Institute of Medicine (IOM) report (1999) stated that the prevalence of medical errors is high in today's health care system. Some specialties in health care are more risky than others. A varying blunder/error rate of 0.1-9.3% in clinical diagnostic laboratories has been reported in the literature. Many of these e...

    journal_title：Clinical biochemistry

    pub_type： 杂志文章,评审

    doi：10.1016/j.clinbiochem.2004.08.009

    authors： Kalra J

    更新日期：2004-12-01 00:00:00

  • Utility of CA 15-3 and CEA in monitoring breast cancer patients with bone metastases: special emphasis on "spiking" phenomena.

    abstract：OBJECTIVES:CA 15-3 and CEA are considered useful tumor markers in monitoring breast cancer patients. This study was undertaken to specifically evaluate the transient elevations in these markers that are observed during systemic treatment for metastatic disease. This phenomenon has been termed "spiking." DESIGN AND MAT...

    journal_title：Clinical biochemistry

    pub_type： 杂志文章

    doi：10.1016/s0009-9120(96)00133-6

    authors： Yasasever V,Dinçer M,Camlica H,Karaloğlu D,Dalay N

    更新日期：1997-02-01 00:00:00

  • Toward routine diagnosis of hepatitis B virus desoxyribonucleic acid.

    abstract：:Although a multitude of hepatitis B markers are available to discriminate different states of hepatitis B virus (HBV) infection, there remains a need to detect the HBV DNA itself. The HBV DNA test is the only test that can quantify the number of complete virions. As shown in this review, the diagnostic value of testin...

    journal_title：Clinical biochemistry

    pub_type： 杂志文章

    doi：10.1016/0009-9120(93)90127-r

    authors： Hess G,Reuschling M

    更新日期：1993-08-01 00:00:00

  • A review of room temperature storage of biospecimen tissue and nucleic acids for anatomic pathology laboratories and biorepositories.

    abstract：UNLABELLED:Frozen biospecimens are crucial for translational research and contain well-preserved nucleic acids and protein. However, the risks of freezer failure as well as space, cost, and environmental concerns of frozen biospecimens are substantial. OBJECTIVE:The purpose of the study was to review the current statu...

    journal_title：Clinical biochemistry

    pub_type： 杂志文章,评审

    doi：10.1016/j.clinbiochem.2013.12.011

    authors： Lou JJ,Mirsadraei L,Sanchez DE,Wilson RW,Shabihkhani M,Lucey GM,Wei B,Singer EJ,Mareninov S,Yong WH

    更新日期：2014-03-01 00:00:00

  • Screening for adenylosuccinate lyase deficiency using tandem mass spectrometry analysis of succinylpurines in neonatal dried blood spots.

    abstract：OBJECTIVES:Stable isotope dilution coupled with liquid chromatography-tandem mass spectrometry (LC-MS/MS) is the sensitive method for screening for various inherited metabolic disorders using dried blood spots (DBSs). We present a method for LC-MS/MS determination of succinyladenosine (SAdo) and succinylaminoimidazole ...

    journal_title：Clinical biochemistry

    pub_type： 杂志文章

    doi：10.1016/j.clinbiochem.2014.10.004

    authors： Zikanova M,Krijt J,Skopova V,Krijt M,Baresova V,Kmoch S

    更新日期：2015-01-01 00:00:00

  • Triglyceride assay using the ABA-50 and Boehringer Mannheim Triglyceride reagent kit.

    abstract：:1. A procedure for the assay of triglycerides on the ABA-50 is described. 2. The Boehringer Mannheim Triglyceride (Fully Enzymatic method) reagent kit has been evaluated with this method and was found to be satisfactory. ...

    journal_title：Clinical biochemistry

    pub_type： 杂志文章

    doi：10.1016/s0009-9120(77)93190-3

    authors： Owen VM,Tai OH

    更新日期：1977-12-01 00:00:00

  • Increased glutathionylated hemoglobin (HbSSG) in type 2 diabetes subjects with microangiopathy.

    abstract：OBJECTIVE:Protein glutathionylation is considered an important post-translational modification in the pathogenesis of complex diseases. The aim of this study was to examine whether hemoglobin (Hb) is modified by reduced glutathione (GSH) via oxidation of the thiol groups present in diabetes and its associated microangi...

    journal_title：Clinical biochemistry

    pub_type： 杂志文章

    doi：10.1016/j.clinbiochem.2005.06.009

    authors： Sampathkumar R,Balasubramanyam M,Sudarslal S,Rema M,Mohan V,Balaram P

    更新日期：2005-10-01 00:00:00

  • Serum calprotectin levels in elderly males and females without bacterial or viral infections.

    abstract：OBJECTIVES:Calprotectin is released from activated leukocytes and calprotectin can thus be used as a marker for leukocyte activation. Faeces calprotectin is not only used as a marker for inflammatory bowel disease but can also be used to detect leukocyte activation in other body fluids. The aim of the present study was...

    journal_title：Clinical biochemistry

    pub_type： 杂志文章

    doi：10.1016/j.clinbiochem.2014.01.003

    authors： Nilsen T,Sundström J,Lind L,Larsson A

    更新日期：2014-08-01 00:00:00