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.
First Department of Medicine, Faculty of Medicine, Kyushu University, Fukuoka, Japan.
Y
Y
Naritomi
Y
Y
Naito
H
H
Nakashima
E
E
Yokota
T
T
Imamura
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