Abstract

The segregation of the two type I collagen structural gene loci COL1A1 and COL1A2 was analysed in eleven osteogenesis irnperfecta pedigrees by means of restriction-site variants at, or close to, these loci. In each case, the 01 gene was inherited with one or other collagen locus. As well as identifying the common 01 loci the result of this analysis sets limits on the frequency of a third locus and lays the foundation for a widely available antenatal diagnostic test.