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

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Grobler-Rabie, AF; Brebner, DK; Vandenplas, S; Wallis, G; Dalgleish, R; Kaufman, RE; Bester, AJ; Mathew, CG; Boyd, CD

Published Date

  • June 1, 1985

Published In

Volume / Issue

  • 22 / 3

Start / End Page

  • 182 - 186

PubMed ID

  • 2409282

Pubmed Central ID

  • PMC1049422

International Standard Serial Number (ISSN)

  • 0022-2593

Digital Object Identifier (DOI)

  • 10.1136/jmg.22.3.182


  • eng

Conference Location

  • England