Prenatal diagnosis of osteogenesis imperfecta by identification of the concordant collagen 1 allele.

doi:10.1136/jmg.28.3.145

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Article

Prenatal diagnosis of osteogenesis imperfecta by identification of the concordant collagen 1 allele.

Journal of medical genetics - 1 Mar 1991

Lynch J R, Ogilvie D, Priestley L, Baigrie C, Smith R, Farndon P, Sykes B

Abstract excerpt

Dominantly inherited osteogenesis imperfecta is consistently linked to the two loci encoding the alpha 1 and alpha 2 subunits of collagen 1, the predominant bone collagen. We have performed several prenatal diagnoses based on identification of the segregating allele at the concordant locus in cho...

Topics

Alleles
Cells, Cultured
Chorionic Villi
Collagen
Female
Gene Frequency
Genes, Dominant
Genetic Linkage
Haplotypes
Humans
Male
Mutation
Osteogenesis Imperfecta
Pedigree
Pregnancy
Prenatal Diagnosis

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