Molecular Detection of Exon 3 of Beta Globin Gene from Thalassemia Beta Major Patients in RSUD DR. Soeroto Ngawi using Polymerase Chain Reaction–Single Strand Conformation Polimorfism Method

Abstract

Talasemia is a genetic disease that causes globin chain synthesis disorder, a major component of the hemoglobin molecule. With the synthesis of unbalanced globin chains will decrease the production of red blood cells.

This study aims to determine the presence of mutations in exon 2 gene beta globin thalassemia patients using PCR method, where 5 samples in DNA isolation and continued PCR amplification, the amplification result of electrophoresis region 2 beta globin gene Region II is the result of amplification of primary 4 and primer primer reverse 5 with a target of 350 bp, on PCR there is amplification or doubling of the desired DNA sequence based on the primary selection for the reaction, the PCR product of each of these regions which is subsequently performed by SSCP.

PCR-SSCP could analysis the mutation in exon 3 beta globin genes. In the PCR-SSCP result, there was no mutation in region 4 exon 3 in five samples but probably there was mutation in another regions.