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Southeast Asian J Trop Med Public Health ; 1992 ; 23 Suppl 2(): 14-21
Artigo em Inglês | IMSEAR | ID: sea-32137

RESUMO

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.


Assuntos
Sequência de Bases , Códon/genética , DNA , DNA Recombinante , Deleção de Genes , Frequência do Gene , Genótipo , Globinas/genética , Humanos , Dados de Sequência Molecular , Mutação/genética , Fenótipo , Reação em Cadeia da Polimerase , Polimorfismo Genético/genética , Polimorfismo de Fragmento de Restrição , Vigilância da População , Biossíntese de Proteínas/genética , Tailândia/epidemiologia , Transcrição Gênica/genética , Talassemia beta/sangue
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