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 sic kle-cell disease. Since it is a polymerase chain reaction-based techni que, it may be used to detect haemoglobin S and haemoglobin C genotype s 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-glob ulin universal heteroduplex generator. Haemoglobins S and C mutations are identified by characteristic polyacrylamide minigel banding patter ns. The technique is simple and rapid to do, even by nonspecialist lab oratories, and is applicable to large-scale screening for haemoglobin S and C mutations as well as prenatal diagnosis of sickle cell disease .