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. 1981 Oct;68(4):915–919. doi: 10.1172/JCI110346

A new polymorphism in the human beta-globin gene useful in antenatal diagnosis.

M C Driscoll, M Baird, A Bank, E A Rachmilewitz
PMCID: PMC370878  PMID: 6270195

Abstract

A new polymorphism in the beta-globin is described, using the restriction enzyme Asu I. A radioactive probe specifically representing the large intervening sequence (IVS 2) of the beta-globin gene has been used to detect this polymorphism. Normally, a 0.8-kilobase fragment containing beta-IVS 2 is generated by Asu I; however, a 1.0-kilobase fragment is seen in association with 18% of beta A-genes, and 38% of beta-thalassemia genes in an Israeli population studied. By contrast, the Asu I polymorphism has rarely been seen in blacks examined to date. An additional Asu I change is seen the the delta-globin gene with a delta-IVS probe. The beta-Asu I polymorphism is shown to be useful in the antenatal diagnosis of beta-thalassemia.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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