Abstract
Prenatal diagnosis of sickle cell diseases has been available for several years, and our laboratory has performed over 1000 prenatal diagnoses. However, currently available techniques are labor-intensive and time-consuming, and thus the diagnosis is delayed, making the mother's decision difficult. We describe a rapid, high-throughput technique based on the ligation assay coupled with automated capillary fluorescence detection. This new approach allows the diagnosis of both Hgb S and Hgb C to be available in a few hours. We have utilized this technique in 30 prenatal diagnoses and found it to be in complete agreement with the standard diagnoses.
Copyright 2002 John Wiley & Sons, Ltd.
Publication types
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Anemia, Sickle Cell / blood
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Anemia, Sickle Cell / diagnosis*
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Anemia, Sickle Cell / genetics
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Base Sequence
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DNA / chemistry
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DNA Ligases / metabolism*
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Deoxyuracil Nucleotides
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Electrophoresis, Capillary / methods*
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Female
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Genotype
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Globins / genetics
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Hemoglobin A / genetics
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Hemoglobin C / genetics
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Hemoglobin, Sickle / genetics
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Humans
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Molecular Sequence Data
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Oligonucleotides / metabolism*
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Point Mutation
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Polymerase Chain Reaction
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Pregnancy
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Prenatal Diagnosis / methods*
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Sensitivity and Specificity
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Templates, Genetic
Substances
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Deoxyuracil Nucleotides
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Hemoglobin, Sickle
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Oligonucleotides
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deoxyuridine triphosphate
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Globins
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DNA
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Hemoglobin C
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Hemoglobin A
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DNA Ligases