A substitution of cytosine for thymine in codon 110 of the human beta-globin gene is a novel cause of beta-thalassemia phenotypes.
We have described a novel human globin gene mutation that produced in a Japanese family the beta-thalassemia phenotype through a post-translational mechanism. Substitution of proline for leucine at position 110 in the G-helix of the beta-globin chain greatly reduced the molecular stability of the beta-globin subunit, leading to total destruction of the variant globin chains by proteolysis and hence to the beta-thalassemia phenotype. The mutation could be identified after MspI digestion. This detection of the mutation on the gene level is valuable for diagnostic purposes.
Naritomi
Y
Y
First Department of Medicine, Faculty of Medicine, Kyushu University, Fukuoka, Japan.
Naito
Y
Y
Nakashima
H
H
Yokota
E
E
Imamura
T
T
D000595:Amino Acid Sequence; D001483:Base Sequence; D003062:Codon; D003596:Cytosine; D005796:Genes; D005914:Globins / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D010641:Phenotype; D012333:RNA, Messenger; D013789:Thalassemia / Q000097:blood / Q000235:genetics*; D013941:Thymine
D003062:Codon; D012333:RNA, Messenger; D003596:Cytosine; D005914:Globins; D013941:Thymine