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Locus assignment of alpha-globin structural mutations by hybrid-selected translation
The Journal of Clinical Investigation
|January 1, 1985
Summary
This study introduces hybrid-selected translation to quickly identify the specific gene locus of alpha-globin mutations. This method accurately assigns mutations, aiding in the diagnosis of hemoglobinopathies.
Area of Science:
- Molecular Biology
- Genetics
- Hematology
Background:
- Human alpha-globin proteins are encoded by two genes, alpha 1 and alpha 2, located on chromosome 16.
- Mutations in these genes can lead to structural hemoglobinopathies.
- Previously, assigning alpha-chain mutants to specific loci required recombinant DNA technology, involving gene cloning and sequencing.
Purpose of the Study:
- To present an alternative, rapid, and definitive method for assigning alpha-globin mutations to their encoding genetic locus.
- To demonstrate the utility of hybrid-selected translation for this purpose.
Main Methods:
- Utilized hybrid-selected translation to fractionate reticulocyte RNA from individuals with alpha-globin mutations.
- Employed selective hybridization of mRNA species to complementary DNA (cDNA) immobilized on nitrocellulose paper.
- Translated purified mRNA in vitro and analyzed radiolabeled products by gel electrophoresis to identify the mRNA species and gene locus.
Main Results:
- Successfully localized two alpha-globin mutants, alpha 125Pro (Hb Quong Sze) and alpha 47HIS (Hb Hasharon), to the alpha 2 locus.
- Demonstrated the ability to identify globin mutants as alpha or beta and to localize alpha-globin mutants to either the alpha 1 or alpha 2 gene.
Conclusions:
- Hybrid-selected translation offers a rapid and definitive alternative to current methods for assigning alpha-globin mutations.
- This technique can potentially replace peptide analysis for the initial characterization of globin structural mutants.
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