Prenatal diagnosis of sickle cell anemia using PCR and restriction enzyme Dde I.
Prenatal diagnosis of sickle cell anemia was carried out in four fetuses using DNA technology. Fetal chorionic villus specimen were obtained at the 10th week of pregnancy from women at risk of giving birth to children with sickle cell anemia. Whole cellular DNA was obtained and the part of the DNA presumed to have a mutation increased after PCR was performed. After the application of Dde I restriction enzyme, mini gel electrophoresis was performed. The study of the electrophoretic patterns of the DNA indicated that one of the four fetuses was unaffected, one was a carrier and the remaining two were affected.
Gürgey
A
A
Department of Pediatrics, Hacettepe University Faculty of Medicine.
Beksaç
S
S
Mesci
L
L
Cakar
N
N
Karakaş
U
U
Kutlar
A
A
Altay
C
C
D000755:Anemia, Sickle Cell / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D001483:Base Sequence; D004252:DNA Mutational Analysis; D015253:Deoxyribonucleases, Type I Site-Specific / Q000032:analysis*; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D006801:Humans; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D011296:Prenatal Diagnosis
D015253:Deoxyribonucleases, Type I Site-Specific