Diagnosis of sickle-cell disease with a universal heteroduplex generator.

Abstract

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.