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Journal : Biomedical Engineering

CD35 (DEL C) frameshift mutation in exon 2 of β-globin gene on β-thalassemia carriers Niken Satuti Nur Handayani
Biomedical Engineering Vol 1, No 1 (2015): BIOMEDICAL ENGINEERING
Publisher : Biomedical Engineering

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Abstract

Objective : Our work aimed to determine the type and site of mutations of two β-thalassemia carrier sby usinga sequencing method .Methods: DNA genomes were extracted from both carriers blood samples which, by PCR-SSCP analysis, weresuspected of having mutation in exon2 of β-globin gene. The extracted DNA were used as template foramplification 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 wereanalyzed by using software Chromas Bioedit Lite2.1 and 7.1.9Result : The results of the analysis showed the presence of C deletion at codon 35 (Cd 35(del C)) which causesa codon frameshift on both carriers.Conclusion : NLS extract and fractions have high SOD antioxidant value but low DPPH scavenging activity andcan be used as potential hypoglycemic agent.