Segregation analysis of dominant osteogenesis imperfecta in Italy.
Open Access
- 1 June 1990
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 27 (6) , 367-370
- https://doi.org/10.1136/jmg.27.6.367
Abstract
We have performed linkage analysis in seven Italian families, in which mild osteogenesis imperfecta (OI) segregated as a dominant trait, by means of six DNA restriction fragment length polymorphisms (RFLPs) of type I collagen genes. OI type I was linked to the alpha 1(I) gene (COL1A1) in two families, and to the alpha 2(I) gene (COL1A2) in one family. OI type IV segregated with COL1A2 in two families. In two OI type I families, the molecular genetic data were insufficient for exclusion of one gene. Four DNA polymorphisms were particularly informative for cosegregation analysis of OI in Italian kindreds.This publication has 21 references indexed in Scilit:
- Frequency Distribution of the Alleles of Several Variable Number of Tandem Repeat DNA Polymorphisms in the Italian PopulationHuman Heredity, 1990
- Haplotype frequencies of the collagen type-I genes in the Italian populationHuman Genetics, 1989
- Type I procollagen: The gene‐protein system that harbors most of the mutations causing osteogenesis imperfecta and probably more common heritable disorders of connective tissueAmerican Journal of Medical Genetics, 1989
- Inherited disorders of collagen gene structure and expressionAmerican Journal of Medical Genetics, 1989
- Clinical variability of osteogenesis imperfecta linked to COL1A2 and associated with a structural defect in the type I collagen molecule.Journal of Medical Genetics, 1989
- Prenatal Diagnosis in Osteogenesis ImperfectaAnnals of the New York Academy of Sciences, 1988
- Type I procollagen in the severe non-lethal form of osteogenesis imperfectaHuman Genetics, 1988
- Homozygous osteogenesis imperfecta unlinked to collagen I genesHuman Genetics, 1988
- Recurrence risks and prognosis in severe sporadic osteogenesis imperfecta.Journal of Medical Genetics, 1987
- Osteogenesis imperfecta type IIA: evidence for dominant inheritance.Journal of Medical Genetics, 1987