Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 1981 Oct;68(4):915-9.
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

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

M C Driscoll et al. J Clin Invest. 1981 Oct.

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.

PubMed Disclaimer

References

    1. Hemoglobin. 1977;1(4):333-47 - PubMed
    1. Proc Natl Acad Sci U S A. 1978 Mar;75(3):1222-6 - PubMed
    1. Blood. 1978 Oct;52(4):735-9 - PubMed
    1. Proc Natl Acad Sci U S A. 1978 Nov;75(11):5631-5 - PubMed
    1. Proc Natl Acad Sci U S A. 1979 May;76(5):2400-4 - PubMed

Publication types

Substances