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
. 1978 Nov;75(11):5631-5.
doi: 10.1073/pnas.75.11.5631.

Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation

Y W Kan, A M Dozy

Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation

Y W Kan et al. Proc Natl Acad Sci U S A. 1978 Nov.

Abstract

Restriction endonuclease mapping of the human globin genes revealed a genetic variation in a Hpa I recognition site about 5000 nucleotides from the 3' end of the beta-globin structural gene. Instead of a normal 7.6-kilobase (kb) fragment which contains the beta-globin structural gene, 7.0-kb and 13.0-kb variants were detected. Both variants were found in people of African origin and were not detected in Asians or Caucasians. The 13.0-kb variant is frequently associated with the sickle hemoglobin mutation and may be useful for the prediction of the sickle cell gene in prenatal diagnosis. Polymorphism in a restriction enzyme site could be considered as a new class of genetic marker and may offer a new approach to linkage analysis and anthropological studies.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

References

    1. Cell. 1978 Sep;15(1):25-41 - PubMed
    1. Biochem Biophys Res Commun. 1966 Jun 13;23(5):641-6 - PubMed
    1. N Engl J Med. 1977 Nov 17;297(20):1081-4 - PubMed
    1. Proc Natl Acad Sci U S A. 1978 Mar;75(3):1222-6 - PubMed
    1. J Biol Chem. 1978 Jan 10;253(1):12-5 - PubMed

Publication types

LinkOut - more resources