Rapid and non-radioactive screening of sickle cell disease by using polymerase chain reaction

Abstract

Sickle cell disease is an autosomal recessive disorder which is caused by a point mutation (A->T) in each $\beta$-globulin gene on chromosome 11 at the codon for the sixth ammo acid (adenine replaced by thimine). Sickle cell disease is frequently seen in southern part of Turkey and Western Western Trace. Direct detection of mutation used for the diagnosis of sickle cell disease on DNA level varies. Some of them are complex arid need radioactivity. Here a simple and non-radioactive method used for the direct diagnosis of sickle cell anemia in two families. The amplified segment of the mutated region in these cases digested with restriction enzyme (Dde I). Two mutant p-globulin genes (Hb S/Hb'S) in affected cases, mutant and normal $\beta$-globulin genes (Hb S/Hb A) in hétérozygotes (carriers) were observed in mole-cular analyses. Clinical and other laboratory findings supported our diagnosis in homozygous (Hb S/Hb S) and heterozygous (Hb S/Hb A) cases. As a result this rapid and non-radioactive technique is useful for the diagnosis of sickle cell anemia in a screening procedure.