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
. 1985 Jun;22(3):182-6.
doi: 10.1136/jmg.22.3.182.

Polymorphism of DNA sequence in the human pro alpha 2(I) collagen gene

A F Grobler-Rabie, D K Brebner, S Vandenplas, G Wallis, R Dalgleish, R E Kaufman, A J Bester, C G Mathew, C D Boyd

Polymorphism of DNA sequence in the human pro alpha 2(I) collagen gene

A F Grobler-Rabie et al. J Med Genet. 1985 Jun.

Abstract

The human pro alpha 2(I) collagen gene was analysed for the presence of restriction fragment length polymorphisms. DNA from randomly selected unrelated persons of three Southern African populations was cleaved with one of eight different restriction enzymes, electrophoresed, blotted, and hybridised with cDNA and genomic probes specific for the pro alpha 2(I) gene. An MspI polymorphism was detected which results from the loss of a cleavage site within the 3' half of the gene. In two of the populations studied, the polymorphism occurred at significant frequencies, and should therefore prove useful as a genetic marker for the study of inherited disorders of connective tissue involving collagen structure or biosynthesis.

PubMed Disclaimer

References

    1. Am J Roentgenol Radium Ther Nucl Med. 1972 May;115(1):Suppl:1-27 - PubMed
    1. J Mol Biol. 1975 Nov 5;98(3):503-17 - PubMed
    1. Cell. 1977 Oct;12(2):429-39 - PubMed
    1. Biochim Biophys Acta. 1978 Feb 16;517(2):349-59 - PubMed
    1. N Engl J Med. 1979 Jul 12;301(2):77-85 - PubMed

Publication types

LinkOut - more resources