Molecular Detection of Exon 2 of Beta Globin Gene from Thalassemia Beta Major Patients in RSUD DR. Soeroto Ngawi using Polymerase Chain Reaction–Single Strand Conformation Polimorfism Method

Abstract

Beta thalassemia is a hereditary blood disorder that caused by genetic disorder of
globin gene.The condition leads to red blood cell damage so regular blood transfusion is
needed.
This study was aimed to determine the presence of mutations in exon 2 gene beta from
beta globin thalassemia patients using PCR-SSCP method. The DNA was isolated from 5
samples and amplified using PCR. The amplified product was characterizaed using
electrophoresis. Region 2 of beta globin was product of primer forward 4 and primer reverse 5
with 350 bp of target size. The PCR products of each region then futher analyzed using SSCP
method. There was indication of mutation in 1,2,3,and 6 samples whereas no mutation in
sample 5.
Based on the results of research can be concluded that PCR-SSCP method can be
used to determine the type and location of mutations in exon 2 genes β globin from β
thalassemia.