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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.

Original publication

DOI

10.1136/jmg.23.1.19

Type

Journal article

Journal

J Med Genet

Publication Date

02/1986

Volume

23

Pages

19 - 22

Keywords

Achondroplasia, Collagen, DNA Restriction Enzymes, Female, Genes, Genetic Variation, Humans, Male, Mutation, Nucleic Acid Hybridization, Pedigree