Consistent linkage of dominantly inherited osteogenesis imperfecta to the type I collagen loci: COLIA1 and COLIA2

The segregation of COL1A1 and COL1A2, the two genes which encode the chains of type I collagen, was analyzed in 38 dominant osteogenesis imperfecta (OI) pedigrees by using polymorphic markers within or close to the genes. This was done in order to estimate the consistency of linkage of OI genes to t...

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Bibliographic Details
Published in:American journal of human genetics 1990-02, Vol.46 (2), p.293-307
Main Authors: Sykes, B, Ogilvie, D, Wordsworth, P, Wallis, G, Mathew, C, Beighton, P, Nicholls, A, Pope, F M, Steinmann, B
Format: Article
Language:English
Subjects:
collagen
genes
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Summary:The segregation of COL1A1 and COL1A2, the two genes which encode the chains of type I collagen, was analyzed in 38 dominant osteogenesis imperfecta (OI) pedigrees by using polymorphic markers within or close to the genes. This was done in order to estimate the consistency of linkage of OI genes to these two loci. None of the 38 pedigrees showed evidence of recombination between the OI gene and both collagen loci, suggesting that the frequency of unlinked loci in the population must be low. From these results, approximate 95% confidence limits for the proportion of families linked to the type I collagen genes can be set between .91 and 1.00.
ISSN:0002-9297