Article
Licensed
Unlicensed
Requires Authentication
Rapid Detection of the Wilson's Disease H1069Q Mutation by Melting Curve Analysis with the LightCycler
-
Heiko Witt
Published/Copyright:
June 1, 2005
Abstract
Wilson's disease is an inherited autosomal recessive disorder of copper transport characterized by progressive copper accumulation in the liver and the central nervous system. The disease is caused by mutations in the ATP7B gene. Although many different mutations in this gene were described, a substitution of a histidine by a glutamine residue at codon 1069 (H1069Q) accounts for approximately 30–60% of all mutations in Caucasian patients. We describe a DNA-based method using fluorescence resonance energy transfer probes on the LightCycler for rapid determination of the common H1069Q mutation in the ATP7B gene. We screened 53 patients with Wilson's disease for the H1069Q mutation by the melting curve analysis. The reliability and discriminating power of this technique were documented by comparing results of the LightCycler assay with direct DNA sequencing. The protocol allows genotyping of 30 samples in less than 1 hour without a need for restriction enzyme digestion or gel electrophoresis.
:
Published Online: 2005-06-01
Published in Print: 2001-10-01
Walter de Gruyter GmbH & Co. KG
You are currently not able to access this content.
You are currently not able to access this content.
Articles in the same Issue
- Identifying Bacteria in Human Urine: Current Practice and the Potential for Rapid, Near-Patient Diagnosis by Sensing Volatile Organic Compounds
- Risk Factors for Coronary Disease: the Time for a Paradigm Shift?
- Description of a Generally Applicable Model for the Evaluation of Uncertainty of Measurement in Clinical Chemistry
- Nitric Oxide in Liver Transplantation
- Carbohydrate-Deficient Transferrin and Chronic Alcohol Ingestion in Subjects with Transferrin CD-Variants
- Determination of Serum Cortisol by Isotope-Dilution Liquid-Chromatography Electrospray Ionization Tandem Mass Spectrometry with On-line Extraction
- Analysis of 5' Non-Coding Region in Hepatitis C Virus by Single-Strand Conformation Polymorphism and Low-Stringency Single Specific Primer PCR
- Rapid Detection of the Wilson's Disease H1069Q Mutation by Melting Curve Analysis with the LightCycler
- Persistent Hepatitis G Virus (HGV) Infection in Chronic Hemodialysis Patients and Non-B, Non-C Chronic Hepatitis
- Serum 90K/MAC-2BP Glycoprotein in Patients with Liver Cirrhosis and Hepatocellular Carcinoma: a Comparison with α-Fetoprotein
- Testing the Predictability of the Relative Urinary Supersaturation from the Bonn-Risk-Index for Calcium Oxalate Stone Formation
- Reference Values for the Five Electrophoretic Serum Protein Fractions in Caucasian Children by Capillary Zone Electrophoresis
- Reference Intervals from Birth to Adulthood for Serum Thyroxine (T4), Triiodothyronine (T3), free T3, free T4, Thyroxine Binding Globulin (TBG) and Thyrotropin (TSH)
- Pediatric Reference Ranges for Osteocalcin Measured by the Immulite Analyzer
- False Increase in Serum C-Reactive Protein Caused by Monoclonal IgM-λ: a Case Report
- Key Elements of the Implementation of a Quality System in Three Finnish Clinical Laboratories
- The Temple and the Plane Tree: Rationality and Cult at the Beginnings of Western Medicine
- EDTA Samples for the Measurement of Erythrocyte Sedimentation Rate Using Sedimatic 100 Analyser
- Gc-Globulin in Acute Coronary Syndrome
- Handbook of Diagnostic Endocrinology. Edited by I. Jiala, W. E. Winter and D. W. Chan
- EUROMEDLAB 2001 – 14th IFCC-FESCC European Congress of Clinical Chemistry and Laboratory Medicine
- International Society on Thrombosis and Haemostasis, Paris, 612 July 2001. Symposium, Coagulation Monitoring: Bringing the Lab to the Patient
- Meetings and Awards
Articles in the same Issue
- Identifying Bacteria in Human Urine: Current Practice and the Potential for Rapid, Near-Patient Diagnosis by Sensing Volatile Organic Compounds
- Risk Factors for Coronary Disease: the Time for a Paradigm Shift?
- Description of a Generally Applicable Model for the Evaluation of Uncertainty of Measurement in Clinical Chemistry
- Nitric Oxide in Liver Transplantation
- Carbohydrate-Deficient Transferrin and Chronic Alcohol Ingestion in Subjects with Transferrin CD-Variants
- Determination of Serum Cortisol by Isotope-Dilution Liquid-Chromatography Electrospray Ionization Tandem Mass Spectrometry with On-line Extraction
- Analysis of 5' Non-Coding Region in Hepatitis C Virus by Single-Strand Conformation Polymorphism and Low-Stringency Single Specific Primer PCR
- Rapid Detection of the Wilson's Disease H1069Q Mutation by Melting Curve Analysis with the LightCycler
- Persistent Hepatitis G Virus (HGV) Infection in Chronic Hemodialysis Patients and Non-B, Non-C Chronic Hepatitis
- Serum 90K/MAC-2BP Glycoprotein in Patients with Liver Cirrhosis and Hepatocellular Carcinoma: a Comparison with α-Fetoprotein
- Testing the Predictability of the Relative Urinary Supersaturation from the Bonn-Risk-Index for Calcium Oxalate Stone Formation
- Reference Values for the Five Electrophoretic Serum Protein Fractions in Caucasian Children by Capillary Zone Electrophoresis
- Reference Intervals from Birth to Adulthood for Serum Thyroxine (T4), Triiodothyronine (T3), free T3, free T4, Thyroxine Binding Globulin (TBG) and Thyrotropin (TSH)
- Pediatric Reference Ranges for Osteocalcin Measured by the Immulite Analyzer
- False Increase in Serum C-Reactive Protein Caused by Monoclonal IgM-λ: a Case Report
- Key Elements of the Implementation of a Quality System in Three Finnish Clinical Laboratories
- The Temple and the Plane Tree: Rationality and Cult at the Beginnings of Western Medicine
- EDTA Samples for the Measurement of Erythrocyte Sedimentation Rate Using Sedimatic 100 Analyser
- Gc-Globulin in Acute Coronary Syndrome
- Handbook of Diagnostic Endocrinology. Edited by I. Jiala, W. E. Winter and D. W. Chan
- EUROMEDLAB 2001 – 14th IFCC-FESCC European Congress of Clinical Chemistry and Laboratory Medicine
- International Society on Thrombosis and Haemostasis, Paris, 612 July 2001. Symposium, Coagulation Monitoring: Bringing the Lab to the Patient
- Meetings and Awards
