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The segregation of the two type I collagen structural gene loci COL1A1 and COL1A2 was analysed in eleven osteogenesis imperfecta pedigrees by means of restriction-site variants at, or close to, these loci. In each case, the OI gene was inherited with one or other collagen locus. As well as identifying the common OI 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.


Journal article



Publication Date





69 - 72


Chromosome Mapping, Collagen, Female, Genes, Genetic Linkage, Genetic Markers, Genotype, Humans, Male, Osteogenesis Imperfecta, Paternity, Pedigree, Phenotype, Pregnancy, Prenatal Diagnosis