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
Case Reports
. 1986 Feb;23(1):19-22.
doi: 10.1136/jmg.23.1.19.

Evidence against the structural gene encoding type II collagen (COL2A1) as the mutant locus in achondroplasia

D Ogilvie, P Wordsworth, E Thompson, B Sykes
Case Reports

Evidence against the structural gene encoding type II collagen (COL2A1) as the mutant locus in achondroplasia

D Ogilvie et al. J Med Genet. 1986 Feb.

Abstract

The structure of the locus encoding the major cartilage collagen gene (COL2A1) was studied in a total of 19 cases of achondroplasia. No gross rearrangements were seen. The segregation of COL2A1 was examined in three affected kindreds using restriction site and length variants as genetic markers. In two kindreds discordant segregation between the achondroplasia and COL2A1 loci was demonstrated. Paternity/maternity was confirmed using a 'minisatellite' core sequence probe which reveals cross hybridising polymorphic loci.

PubMed Disclaimer

References

    1. Hum Genet. 1985;70(1):35-7 - PubMed
    1. Nature. 1985 Mar 7-13;314(6006):67-73 - PubMed
    1. Clin Genet. 1977 Jan;11(1):31-8 - PubMed
    1. J Med Genet. 1985 Jun;22(3):187-91 - PubMed
    1. Ann Genet. 1976 Jun;19(2):119 - PubMed

Publication types