Initiation codon mutation as a cause of alpha thalassemia.

Abstract

Cloning and sequence analysis of the alpha-globin genes from a Sardinian patient with the nondeletion type of hemoglobin-H disease revealed a new type of thalassemia lesion. A mutation in the alpha 2-globin gene changes the initiation codon ATG to ACG and abolishes the function of this gene. Globin mRNA output from the affected alpha 2 locus is decreased relative to the alpha 1 locus. The mutation is detectable in genomic DNA by restriction analysis with the enzyme NcoI. Of the seven Sardinian patients with nondeletion alpha thalassemia screened with this enzyme, six had the initiation codon lesion.

• Authors: M Pirastu, G Saglio, J C Chang, A Cao, Y W Kan
• Journal: The Journal of biological chemistry (J Biol Chem) Vol. 259 Issue 20 Pg. 12315-7 (Oct 25 1984) ISSN: 0021-9258 [Print] United States
• PMID: 6490612 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Codon
• RNA, Messenger
• Globins

Topics

• Base Sequence
• Cloning, Molecular
• Codon (genetics)
• Genes
• Globins (genetics)
• Humans
• Leukocytes (metabolism)
• Mutation
• RNA, Messenger (genetics)
• Reticulocytes (metabolism)
• Thalassemia (genetics)