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  • Title: Prenatal detection of beta-thalassemia CD17 (A-->T) mutation by polymerase chain reaction/ligase detection reaction/capillary electrophoresis for fetal DNA in maternal plasma--a case report.
    Author: Yi P, Chen Z, Yu L, Zheng Y, Xie H, Zheng X, Liu Q, Han J, Li L.
    Journal: Fetal Diagn Ther; 2010; 27(1):25-31. PubMed ID: 19955703.
    Abstract:
    OBJECTIVES: It was the aim of this study to investigate the feasibility of polymerase chain reaction (PCR)/ligase detection reaction (LDR)/capillary electrophoresis for the detection of paternally inherited fetal CD17 (A-->T) mutation of beta-thalassemia in maternal plasma. METHODS: The target DNA in maternal plasma was amplified by PCR and the mutant signal was detected by LDR. Unique LDR products were produced and separated by capillary electrophoresis. PCR/LDR/capillary electrophoresis was applied to detect CD17 (A-->T) mutation in an experimental model at different sensitivity levels and from 3 maternal plasma samples. RESULTS: The sensitivity of PCR/LDR/capillary electrophoresis for detecting low-abundance CD17 (A-->T) mutation was 1:5,000 at least. The technique was applied in maternal plasma DNA for detecting paternally inherited fetal CD17 (A-->T) mutation, and the results were concordant with that of PCR/reverse dot blot of amniotic fluid cell DNA. CONCLUSIONS: PCR/LDR/capillary electrophoresis has a very high sensitivity to distinguish low-abundance single nucleotide differences and probably detects paternally inherited fetal point mutations in maternal plasma.
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