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Abstract: Beta (β)-thalassemia is the most common genetic disease of anemia caused by mutations on beta globin gene. In Vietnam, there is a high frequency of β -thalassemia carriers with a prevalence ranging from 1.5 to 25.0 % in the different ethnic groups. The most common mutations are the nonsense in codon (CD) 17 (A>T), codon 26 (G>A) and the frameshift at codons 41/42 (-TTCT). The polymerase chain reaction-amplification refractory mutation system (PCR-ARMS) is challenged by using a great number of primer sets for detecting normal and mutated alleles. Reverse dot-blot hybridization using oligonucleotide probes can simultaneously detect allelic specific mutations on a membrane. In this study, we designed oligonucleotide probes specific to the three most common mutations in CD17, CD26 and CD41/42, and used them to optimize hybridization conditions at 68 0C in 6xSSC hybridization buffer, 2XSSC washing buffer for detecting homozygous or hetezygous alleles of beta globin gene in fifteen individuals of 5 families. Our results were consistent with those detected by PCR-AMRS method, indicating that oligonucleotide probes created by this study was specific, and that the reverse dot-blot hybridization using these oligo probes was convenient for analysis of beta thalassemia disease inVietnam.Keywords: Beta globin gene, beta thalassemia disease, polymerase chain reaction-amplification refractory mutation system (PCR-ARMS), reverse dot-blot analysis.
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