Diagnosis of sickle-cell disease with a universal heteroduplex generator.
A new diagnostic technique, universal heteroduplex generator screening, has been developed to detect homozygosity and heterozygosity for sickle-cell disease. Since it is a polymerase chain reaction-based technique, it may be used to detect haemoglobin S and haemoglobin C genotypes in adults, neonates, or from coelocentesis during the first 10 weeks of pregnancy. beta-globin gene nucleotide sequences are amplified by the polymerase chain reaction, and are heteroduplexed with a beta-globulin universal heteroduplex generator. Haemoglobins S and C mutations are identified by characteristic polyacrylamide minigel banding patterns. The technique is simple and rapid to do, even by nonspecialist laboratories, and is applicable to large-scale screening for haemoglobin S and C mutations as well as prenatal diagnosis of sickle cell disease.
Wood
N
N
University of Bristol Department of Transplantation Sciences, Homeopathic Hospital, Cotham, Bristol, UK.
Standen
G
G
Hows
J
J
Bradley
B
B
Bidwell
J
J
D000755:Anemia, Sickle Cell / Q000175:diagnosis* / Q000235:genetics; D001483:Base Sequence; D004247:DNA; D017931:DNA Primers; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D006441:Hemoglobin A / Q000235:genetics; D006444:Hemoglobin C / Q000235:genetics; D006451:Hemoglobin, Sickle / Q000235:genetics; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008969:Molecular Sequence Data; D009692:Nucleic Acid Heteroduplexes; D016133:Polymerase Chain Reaction / Q000379:methods*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*
D017931:DNA Primers; D006451:Hemoglobin, Sickle; D009692:Nucleic Acid Heteroduplexes; D004247:DNA; D006444:Hemoglobin C; D006441:Hemoglobin A