Abstract
Cord blood samples of 113 Japanese babies from Kurashiki, Japan, were analyzed for the presence of possible modifications in γ-globin gene arrangements and for changes in the relative quantities of the γ chains Gγ, Aγ, and its variant AγT. As many as 9 babies had the γ-globin gene triplication, one a γ-globin gene quadruplication, and two a γ-globin gene deletion. The triplication and quadruplication involved cross-overs within the Gγ- and Aγ-globin genes resulting in a hybrid gene with the 5'-segment being derived from the Aγ and the 3'-segment from the Gγ-globin gene (-AGγ-). The Gγ value of the 9 babies with the -Gγ-AGγ-Aγ-globin gene arrangement averaged 8̃0% and that of the baby with -Gγ-AGγ-AGγ-A γ- was 78%. Four of the 9 babies with the triplication and the baby with the quadruplication had an AγT mutation in trans; in these babies, the Aγ chain level (from the Aγ-globin gene in 3'-position in the tri- and quadruplication arrangements) was decreased to about one-third and one-sixth of the level observed in the simple AγT heterozygote. This observation supports the suggestion that transcription beginning at the 5'-γ-globin gene interferes with that of the 3'-γ-globin gene.
Original language | English (US) |
---|---|
Pages (from-to) | 45-49 |
Number of pages | 5 |
Journal | FEBS Letters |
Volume | 190 |
Issue number | 1 |
DOIs | |
State | Published - Oct 7 1985 |
Keywords
- Hybrid gene
- γ level
- γ level
- γ-Globin gene quadruplication
- γ-Globin gene triplication
- γT level Decreased transcription
ASJC Scopus subject areas
- Biophysics
- Structural Biology
- Biochemistry
- Molecular Biology
- Genetics
- Cell Biology