Osteogenesis imperfecta is linked to both type I collagen structural genes.
作者： Bryan Sykes , Paul Wordsworth , Donald Ogilvie , John Anderson , Nigel Jones
DOI: 10.1016/S0140-6736(86)91609-0
关键词: Locus (genetics) 、 Osteogenesis imperfecta 、 Type I collagen 、 Genetic marker 、 Genetic linkage 、 Gene 、 Structural gene 、 Medicine 、 Locus heterogeneity 、 Genetics
摘要: The segregation of the two type I collagen structural gene loci COL1A1 and COL1A2 was analysed in eleven osteogenesis imperfecta pedigrees by means restriction-site variants at, or close to, these loci. In each case, OI inherited with one other locus. As well as identifying common result this analysis sets limits on frequency a third locus lays foundation for widely available antenatal diagnostic test.
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