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Genotyping mitochondrial DNA single nucleotide polymorphisms by PCR ligase detection reactions
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Yongjun Luo
Veröffentlicht/Copyright:
4. Februar 2010
Abstract
Background: The identification of human mitochondrial DNA (mtDNA) sequence variations, especially single nucleotide polymorphisms (SNPs), is important for many applications. The PCR-ligase detection reaction (LDR) method can reduce false-positives and eliminate the need for both post-PCR and post-ligation purifications in SNP analyses. In addition, it has been successfully employed to detect point mutations in various nuclear genes. In this study, we used the PCR-LDR platform to characterize mtDNA SNPs.
Methods: Multiplex PCR-LDRs were used to genotype 19 mtDNA single nucleotide polymorphic sites from 812 samples. Performance of the method was assessed by direct sequencing of 44 samples.
Results: We established an overall 97.4% success rate with 99.2% accuracy using the multiplex PCR-LDR methodology.
Conclusions: The PCR-LDR mtDNA genotyping technique is simple, highly accurate, has high-throughput, and is cost-effective. Therefore, this method is applicable to mtDNA haplotyping in various applications.
Clin Chem Lab Med 2010;48:475–83.
Received: 2009-10-5
Accepted: 2009-11-23
Published Online: 2010-02-4
Published in Print: 2010-04-01
©2010 by Walter de Gruyter Berlin New York
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Schlagwörter für diesen Artikel
ligase detection reaction;
mitochondrial DNA;
single nucleotide polymorphisms
Artikel in diesem Heft
- Editorials
- Molecular biology and genetics in clinical chemistry and laboratory medicine
- Improving the post-analytical phase
- Reviews
- State of the art in therapeutic drug monitoring
- Decision criteria for rational selection of homogeneous genotyping platforms for pharmacogenomics testing in clinical diagnostics
- Reference Values and Biological Variations
- Assessment of critical values policies in Italian institutions: comparison with the US situation
- Genetics and Molecular Diagnostics
- Performance evaluation of the Abbott RealTime HCV Genotype II for hepatitis C virus genotyping
- Genotyping mitochondrial DNA single nucleotide polymorphisms by PCR ligase detection reactions
- FOXL2 mutations in Taiwanese patients with blepharophimosis, ptosis, epicanthus inversus syndrome
- Low expression of human β-defensin 1 in duodenum of celiac patients is partially restored by a gluten-free diet
- General Clinical Chemistry and Laboratory Medicine
- Evaluation of C-reactive protein and serum amyloid A in the detection of inflammatory and infectious diseases in children
- Procalcitonin measurement in routine emergency medicine practice: comparison between two immunoassays
- Clinical application of a lectin-antibody ELISA to measure fucosylated haptoglobin in sera of patients with pancreatic cancer
- Simultaneous determination of serum tryptophan metabolites in patients with systemic lupus erythematosus by high performance liquid chromatography with fluorescence detection
- Beware of carryover in modern chemistry analyzers
- Correlation between glucose and bupivacaine levels in cerebrospinal fluid after spinal anesthesia: glycorrhachia as predictor for duration of sensory block
- Comparison of different depletion strategies for improving resolution of the human urine proteome
- Cardiovascular Diseases
- Pregnancy-associated plasma protein-A as a marker for long-term mortality in patients with peripheral atherosclerosis: inconclusive findings from the Linz Peripheral Arterial Disease (LIPAD) study
- Association of matrix metalloproteinase 9 genotypes and cardiovascular disease risk factors with serum matrix metalloproteinase 9 concentrations in Taiwanese individuals
- C-reactive protein variants are not associated with susceptibility to stroke and stroke recurrence
- Association of hyperhomocysteinemia with left ventricular dilatation and mass in human heart
- A methodological reappraisal of total and high molecular weight adiponectin determination in human peripheral circulation: comparison of four immunometric assays
- Letters to the Editor
- High specificity but low sensitivity of the cartilage oligomeric matrix protein (COMP) test in rheumatoid arthritis and osteoarthritis
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