Molecular basis of beta (0)-thalassemia/HbE disease in Thailand.
The molecular basis of beta(0)-thalassemia/HbE disease in 30 Thai patients was investigated using DNA amplification and dot-blot hybridization with a number of allele specific oligonucleotide probes. The mutations identified were 17 cases of 4 base-pair deletion at codons 41-42, 4 cases of amber mutation at codon 17, and one case each of an ochre mutation at codon 35, a single base substitution at position 5 of IVS-1, and a single base substitution at position 654 of IVS-2.
Department of Biochemistry, Faculty of Science, Mahidol University, Bangkok Thailand.
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S
Petmitr
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Wilairat
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J
Kownkon
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P
Winichagoon
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Fucharoen
D001345:Autoradiography; D001483:Base Sequence; D003062:Codon; D004247:DNA / Q000235:genetics; D005784:Gene Amplification; D005914:Globins / Q000235:genetics*; D006446:Hemoglobin E / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D009154:Mutation; D009693:Nucleic Acid Hybridization; D015345:Oligonucleotide Probes; D013785:Thailand; D013789:Thalassemia / Q000235:genetics*
D003062:Codon; D006455:Hemoglobins, Abnormal; D015345:Oligonucleotide Probes; D005914:Globins; D004247:DNA; D006446:Hemoglobin E