title: Rapid prenatal diagnosis of sickle cell diseases using oligonucleotide ligation assay coupled with laser-induced capillary fluorescence detection.
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.
authors.affiliation: Division of Pediatric Hematology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA.
authors.forename: Nancy S
authors.initials: NS
authors.lastname: Day
authors.forename: Marija
authors.initials: M
authors.lastname: Tadin
authors.forename: Angela M
authors.initials: AM
authors.lastname: Christiano
authors.forename: Patricia
authors.initials: P
authors.lastname: Lanzano
authors.forename: Sergio
authors.initials: S
authors.lastname: Piomelli
authors.forename: Stephen
authors.initials: S
authors.lastname: Brown
mesh_terms: D000755:Anemia, Sickle Cell / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D001483:Base Sequence; D004247:DNA / Q000737:chemistry; D011088:DNA Ligases / Q000378:metabolism*; D003856:Deoxyuracil Nucleotides; D019075:Electrophoresis, Capillary / Q000379:methods*; D005260:Female; D005838:Genotype; D005914:Globins / Q000235:genetics; D006441:Hemoglobin A / Q000235:genetics; D006444:Hemoglobin C / Q000235:genetics; D006451:Hemoglobin, Sickle / Q000235:genetics; D006801:Humans; D008969:Molecular Sequence Data; D009841:Oligonucleotides / Q000378:metabolism*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D012680:Sensitivity and Specificity; D013698:Templates, Genetic
chemical_list: D003856:Deoxyuracil Nucleotides; D006451:Hemoglobin, Sickle; D009841:Oligonucleotides; C027078:deoxyuridine triphosphate; D005914:Globins; D004247:DNA; D006444:Hemoglobin C; D006441:Hemoglobin A; D011088:DNA Ligases