CD35 (DEL C) frameshift mutation in exon 2 of β-globin gene on β-thalassemia carriers

Niken Satuti Nur Handayani


Objective : Our work aimed to determine the type and site of mutations of two β-thalassemia carrier sby using
a sequencing method .
Methods: DNA genomes were extracted from both carriers blood samples which, by PCR-SSCP analysis, were
suspected of having mutation in exon2 of β-globin gene. The extracted DNA were used as template for
amplification of the exon by using specific primers. Amplicon were then read by using the Sanger
(dideoxynucleotide chain terminator) method with the reverse and forward primers. Sequencing data were
analyzed by using software Chromas Bioedit Lite2.1 and 7.1.9
Result : The results of the analysis showed the presence of C deletion at codon 35 (Cd 35(del C)) which causes
a codon frameshift on both carriers.
Conclusion : NLS extract and fractions have high SOD antioxidant value but low DPPH scavenging activity and
can be used as potential hypoglycemic agent.

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