Abstract
Osteogenesis imperfecta (OI) is a genetically heterogeneous group of connective tissue disorders. Mutations in Type I collagen have been shown in a number of OI variants. Using restriction fragment length polymorphisms (RFLPs) associated with the two structural genes of Type I collagen we studied the segregation of these markers in families with autosomal dominant OI. The RFLPs have been previously reported (Tsipouras et al, Am.J. Hum. Genet. 1984: 36:1172-9, Sykes et al, Lancet 1986:2:69-72). In four families with OI type IV we observed concordant segregation to the COL1A2 RFLPs and discordant to the COL1A1. In one family with OI type I we observed concordance to the CUL1A1 and discordance to the COL1A2. Finally in one family with OI type I we observed discordance to both the COL1A1 and COL1A2. Our results suggest that: a) autosomal dominant OI is genetically heterogeneous and b) a locus other than the COL1A1 and COL1A2 may be involved in the etiology of OI.
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Tsipouras, P., Schwartz, R. DOMINANTLY INHERITED OSTEOGENESIS IMPERFECTA (OI TYPES I AND IV) IS GENETICALLY LINKED TO THE COLIAI AND CJL1A2 GENES OF TYPE I COLLAGEN. Pediatr Res 21 (Suppl 4), 294 (1987). https://doi.org/10.1203/00006450-198704010-00764
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DOI: https://doi.org/10.1203/00006450-198704010-00764