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Related Experiment Videos

Mutation in an intervening sequence splice junction in man

S H Orkin, S C Goff, R L Hechtman

    Proceedings of the National Academy of Sciences of the United States of America
    |August 1, 1981
    PubMed
    Summary

    A deletion in the alpha 2-globin gene

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    Area of Science:

    • Molecular Biology
    • Genetics
    • Hematology

    Background:

    • Alpha-thalassemia is a genetic blood disorder characterized by reduced or absent synthesis of alpha-globin chains.
    • Absence of alpha 2-globin messenger RNA (mRNA) indicates a severe form of alpha-thalassemia.

    Purpose of the Study:

    • To identify the genetic defect in an individual with alpha-thalassemia and absent alpha 2-globin mRNA.
    • To investigate the functional consequences of the identified genetic mutation.

    Main Methods:

    • Cloning of the alpha 2-globin gene using bacteriophage.
    • In vitro transcription assays to assess gene activity.
    • DNA sequencing to identify mutations within the cloned gene.

    Main Results:

    • The cloned alpha 2-globin gene was transcriptionally active in vitro.
    • DNA sequencing revealed a specific pentanucleotide deletion (T-G-A-G-G) at the 5' splice junction of the first intervening sequence.
    • No other sequence abnormalities were detected in the mutant gene.

    Conclusions:

    • The pentanucleotide deletion at the splice junction is the likely cause of alpha-thalassemia in this individual.
    • This splice junction defect leads to the failure of stable alpha 2-globin mRNA formation, resulting in the observed phenotype.

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