Structural analysis of a beta-thalassemia gene found in Taiwan.
The beta-globin gene from a patient with homozygous beta-thalassemia in Taiwan was cloned and extensively sequenced. Four nucleotides in the codon for amino acids, 41 and 42, are deleted. This change generates a frame-shift mutation and a termination codon in the new 59th codon. Some changes in nucleotide sequence were also found in intervening sequences IVS1 and IVS2, and Exon3, and were considered to be sequence polymorphisms.
D000595:Amino Acid Sequence; D001483:Base Sequence; D002675:Child, Preschool; D003001:Cloning, Molecular; D004247:DNA / Q000097:blood / Q000235:genetics; D005796:Genes; D005914:Globins / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007962:Leukocytes / Q000032:analysis; D008297:Male; D013624:Taiwan; D013789:Thalassemia / Q000235:genetics*
D005914:Globins; D004247:DNA