Five families with arginine519-cysteine mutation in COL2A1: Evidence for three distinct founders

Jane F. Bleasel, Daniel Holderbaum, Valeria Brancolini, Roland W. Moskowitz, Eileen L. Considine, Darwin J. Prockop, Marcella Devoto, Charlene J. Williams

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    25 Scopus citations


    Arginine519-cysteine mutation in the type II procollagen gene (COL2A1) is known to be associated with mild spondyloepiphyseal dysplasia (SED) and precocious generalized osteoarthritis (OA). Five families have now been identified with this mutation. To determine whether a common founder was responsible for the mutation in these five families, we defined the haplotype of the mutation-bearing chromosome using four restriction fragment length polymorphisms (RFLPs) and the 3'-untranslated region VNTR. Haplotype frequencies were estimated for 69 control samples. Three distinct mutation- bearing haplotypes were identified, with three families sharing a common haplotype. For three distinct haplotypes to have derived from a single founder, three independent recombination events would have had to occur. Thus the arg519 codon appears to represent a possible site of recurrent mutations in COL2A1, an uncommon phenomenon in collagen genes.

    Original languageEnglish (US)
    Pages (from-to)172-176
    Number of pages5
    JournalHuman Mutation
    Issue number3
    StatePublished - 1998

    All Science Journal Classification (ASJC) codes

    • Genetics
    • Genetics(clinical)


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