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A substitution of cytosine for thymine in codon 110 of the human β-globin gene is a novel cause of β-thalassemia phenotypes

✍ Scribed by Yuji Naritomi; Yasushi Naito; Hitoshi Nakashima; Eisuke Yokota; Takashi Imamura

Publisher
Springer
Year
1988
Tongue
English
Weight
725 KB
Volume
80
Category
Article
ISSN
0340-6717

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✦ Synopsis

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.

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