Abstract：
BACKGROUND:The many techniques used to diagnose the Factor V Leiden (FVL) mutation, the most common hereditary hypercoagulation disorder in Eurasians, and the most frequently requested genetic test reflect the evolving strategies in protein and DNA diagnosis. METHODS:Here, molecular methods to diagnose the FVL mutation are discussed. RESULTS:Protein-based detection assays include the conventional functional activated protein C resistance coagulation test and the recently reported antibody-mediated sensor detection; and DNA-based assays include approaches that use electrophoretic fractionation e.g., restriction fragment length polymorphism, denaturing gradient gel electrophoresis, and single-stranded conformational PCR analysis, DNA hybridization (e.g., microarrays), DNA polymerase-based assays, e.g., extension reactions, fluorescence polarization template-directed dye-terminator incorporation, PCR assays (e.g., amplification-refractory mutation system, melting curve analysis using real-time quantitative PCR, and helicase-dependent amplification), DNA sequencing (e.g., direct sequencing, pyrosequencing), cleavase-based Invader assay and ligase-based assays (e.g., oligonucleotide ligation assay and ligase-mediated rolling circle amplification). CONCLUSION:The method chosen by a laboratory to diagnose FVL not only depends on the available technical expertise and equipment, but also the type, variety, and extent of other genetic disorders being diagnosed.
journal_name
J Clin Lab Analjournal_title
Journal of clinical laboratory analysisauthors
Oh H,Smith CLdoi
10.1002/jcla.20470subject
Has Abstractpub_date
2011-01-01 00:00:00pages
259-88issue
4eissn
0887-8013issn
1098-2825journal_volume
25pub_type
杂志文章abstract：BACKGROUND:Renal failure is a severe complication of symptomatic myeloma, related to higher mortality. Recovery from dialysis dependence can lead to enormous survival benefits. We investigated the effect factors for probability of dialysis independence. METHODS:Retrospective data on 45 newly diagnosed MM (NDMM) patien...
journal_title：Journal of clinical laboratory analysis
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abstract：:Quantitation of hemoglobin alpha 2 delta 2 (HbA2) is a basic and confirmatory test in diagnosing the carrier state of beta-thalassemia. The present study was designed to investigate the effect of cigarette smoking on the diagnostic reliability of HbA2. A total of 2,867 (654 smokers and 2,213 never smokers) male subjec...
journal_title：Journal of clinical laboratory analysis
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journal_title：Journal of clinical laboratory analysis
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doi：10.1002/(sici)1098-2825(1998)12:5<289::aid-jcla7>3
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journal_title：Journal of clinical laboratory analysis
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