DNA diagnosis of X-linked amelogenesis imperfecta (AIH1)
1Molecular Medicine Unit, University of Leeds, St. James's University Hospital, West Yorkshire, United Kingdom.
Abstract:
Mutations in the amelogenin gene, AMGX, are known to cause X-linked amelogenesis imperfecta (AIH1). We have used DNA single-strand conformational polymorphism analysis and DNA sequencing to diagnose this disorder unequivocally in two related boys aged 3 and 7 years, respectively, from a family in which an existing mutation in the amelogenin gene is segregating.
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