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  • Title: Molecular heterogeneity of beta-thalassemia in Thailand.
    Author: Fukumaki Y, Fucharoen S, Fucharoen G, Okamoto N, Ichinose M, Jetsrisuparb A, Sriroongrueng W, Nopparatana C, Laosombat V, Panich V.
    Journal: Southeast Asian J Trop Med Public Health; 1992; 23 Suppl 2():14-21. PubMed ID: 1363706.
    Abstract:
    beta-Globin genes in 294 chromosomes of beta-thalassemia homozygotes and patients of beta-thalassemia/HbE in the northeast, the middle and the south of Thailand were analyzed by the PCR related techniques: dot blot hybridization, direct restriction assay, direct cloning and direct sequencing of the amplified DNA fragments. Twelve different mutations were detected at various frequencies. They are an A-G at-28, codon 19 (AAC-AGC), a G-T at IVS-1 nt1,a G-C at IVS-1 nt5, a C-T at IVS-2 nt654, a G addition in codons 8/9, a C deletion in codon 41, a 4 bp deletion in codons 41/42, an A addition in codons 71/72, an AAG-TAG in codon 17, a CAG-TAG in codon 26, a TAC-TAA in codon 35 and a 8 bp deletion in codons 123-125. We also developed allele specific-polymerase chain reaction to facilitate non-radioactive detection of the mutation. Origins and spread of mutations are speculated based on the results of determination of haplotypes and frameworks that are linked to the thalassemia alleles.
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