Rapid prenatal diagnosis of sickle cell diseases using oligonucleotide ligation assay coupled with laser-induced capillary fluorescence detection.
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.
Day
Nancy S
NS
Division of Pediatric Hematology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA.
Tadin
Marija
M
Christiano
Angela M
AM
Lanzano
Patricia
P
Piomelli
Sergio
S
Brown
Stephen
S
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
D003856:Deoxyuracil Nucleotides; D006451:Hemoglobin, Sickle; D009841:Oligonucleotides; C027078:deoxyuridine triphosphate; D005914:Globins; D004247:DNA; D006444:Hemoglobin C; D006441:Hemoglobin A; D011088:DNA Ligases