Work

Prenatal prediction of osteogenesis imperfecta (OI type IV): exclusion of inheritance using a collagen gene probe.

Year: 1987

Type: article

Abstract: Autosomal dominant osteogenesis imperfecta is caused by mutations in the COL1A2 and COL1A1 genes of type I collagen. In a family with OI type IV genetically linked to the COL1A2 gene, we attempted prenatal diagnosis in a pregnancy at risk by genotyping the DNA of the fetus for a COL1A2 gene associated RFLP. Our results showed that the fetus inherited the normal COL1A2 allele from her affected parent. Linkage analysis can thus be used in the prenatal diagnosis of dominantly inherited osteogenesis imperfecta.

Source: Journal of Medical Genetics

DOI: 10.1136/jmg.24.7.406

Authors: P Tsipouras, R C Schwartz, J D Goldberg, R L Berkowitz, F Ramirez

Institutions: State University of New York, University of California, San Francisco, SUNY Downstate Health Sciences University, UConn Health, Icahn School of Medicine at Mount Sinai

Language: English

Topic: Connective tissue disorders research

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

Funders: March of Dimes Foundation, National Institutes of Health, National Institute of Arthritis and Musculoskeletal and Skin Diseases