Rapid prenatal diagnosis of sickle cell diseases using oligonucleotide ligation assay coupled with laser-induced capillary fluorescence detection

Prenat Diagn. 2002 Aug;22(8):686-91. doi: 10.1002/pd.380.

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.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Anemia, Sickle Cell / blood
  • Anemia, Sickle Cell / diagnosis*
  • Anemia, Sickle Cell / genetics
  • Base Sequence
  • DNA / chemistry
  • DNA Ligases / metabolism*
  • Deoxyuracil Nucleotides
  • Electrophoresis, Capillary / methods*
  • Female
  • Genotype
  • Globins / genetics
  • Hemoglobin A / genetics
  • Hemoglobin C / genetics
  • Hemoglobin, Sickle / genetics
  • Humans
  • Molecular Sequence Data
  • Oligonucleotides / metabolism*
  • Point Mutation
  • Polymerase Chain Reaction
  • Pregnancy
  • Prenatal Diagnosis / methods*
  • Sensitivity and Specificity
  • Templates, Genetic

Substances

  • Deoxyuracil Nucleotides
  • Hemoglobin, Sickle
  • Oligonucleotides
  • deoxyuridine triphosphate
  • Globins
  • DNA
  • Hemoglobin C
  • Hemoglobin A
  • DNA Ligases