Evidence against the structural gene encoding type II collagen (COL2A1) as the mutant locus in achondroplasia.
Open Access
- 1 February 1986
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 23 (1), 19-22
- https://doi.org/10.1136/jmg.23.1.19
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.This publication has 11 references indexed in Scilit:
- Exclusion of the alpha 1(II) cartilage collagen gene as the mutant locus in type IA osteogenesis imperfecta.Journal of Medical Genetics, 1985
- Identification and characterization of the human type II collagen gene (COL2A1).Proceedings of the National Academy of Sciences, 1985
- Lethal osteogenesis imperfecta and a collagen gene deletion. Length polymorphism provides an alternative explanationHuman Genetics, 1985
- Hypervariable ‘minisatellite’ regions in human DNANature, 1985
- Lethal osteogenesis imperfecta and a gene deletionBMJ, 1984
- Isolation and characterization of a human collagen α 1(I)-like gene from a cosmid libraryNucleic Acids Research, 1982
- Normal Somatomedin and Somatomedin Receptors in Achondroplastic DwarfismHormone and Metabolic Research, 1980
- A new estimate of the achondroplasia mutation rateClinical Genetics, 1977
- GEL ELECTROPHORETIC STUDIES OF ALPHA CHAINS AND OF MAJOR CNBR DERIVED PEPTIDES OF COLLAGEN OF GROWTH CARTILAGE IN OSTEOCHONDRODYSPLASIAS1976
- Biochemical analysis of epiphyseal cartilage during growth and in some osteochondrodysplasias.1975