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A Simple and Rapid Analysis of Triplet Repeat Diseases by Expand Long PCR
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Silvia Hećimović
Published/Copyright:
June 1, 2005
Abstract
It is now known that 15 monogenic, mostly neurological, disorders are caused by the same type of mutations that occur in trinucleotide repeat sequences in certain genes. Since they share a nonspecific and variable phenotype, the accurate diagnosis could be made only by DNA analysis. We developed an Expand Long PCR assay that provides more reliable molecular diagnosis of such disorders. Its main characteristics are robust amplification of expanded alleles, simplicity, low cost and speed. We suggest the use of Expand Long PCR for routine molecular diagnosis of triplet repeat diseases, and present such analysis of the fragile X syndrome, myotonic dystrophy and Huntington's disease.
:
Published Online: 2005-06-01
Published in Print: 2001-12-07
Copyright © 2001 by Walter de Gruyter GmbH & Co. KG
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Articles in the same Issue
- Contents
- Subject Index
- Author Index
- Summary of the 2nd Sino-European Congress of Laboratory Medicine
- Laboratory Diagnosis of Viral Hepatitis in China: The Present and the Future
- Molecular Diagnostics in China
- Detection of Usual and Atypical Aldehyde Dehydrogenase Alleles by Mismatch Amplification Mutation Assay
- Expression of Prostaglandin D Synthase in Ovarian Cancer
- Carrier Detection and Prenatal Diagnosis of Hemophilia A
- Detection of Oligoclonal Immunoglobulins in the Cerebrospinal Fluid by Immunofixation Electrophoresis
- 2nd Sino-European Congress of Laboratory Medicine – Strategies for Laboratory Diagnostics in Medicine
- The Problems and Strategy relevant to the Quality Management of Clinical Laboratories
- Computer Application to the Laboratory Management in Hospital
- The Basis of the Synovial Fluid Analysis
- Determination of Tumor Markers in Serum. Pitfalls and Good Practice
- Gas Chromatography-Mass Spectrometry Measurement of 6β-OH-Cortisol/Cortisol Ratio in Human Urine: A Specific Marker of Enzymatic Induction
- No Variation in Hsp70 mRNA Level during Cardiac Surgery in Pediatric Patients Evaluated by Semiquantitative RT-PCR
- Rapid Detection of Macroprolactin in tHe Form of Prolactin-Immunoglobulin G Complexes by Immunoprecipitation with Anti-human IgG-Agarose
- Molecular Characterization of Chromosome 22 Deletions by Short Tandem Repeat Polymorphism (STRP) in Patients with Conotruncal Heart Defects
- A Simple and Rapid Analysis of Triplet Repeat Diseases by Expand Long PCR
- The Effects of Peroxynitrite on Erythrocytes
- The Use of Hirudin as Universal Anticoagulant in Haematology, Clinical Chemistry and Blood Grouping
- Comparison of Different Immunoassays for CA 19-9
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- Acknowledgement
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