DNA diagnosis of X‐linked amelogenesis imperfecta (AIH1)
Copyright policy )DNA diagnosis of X‐linked amelogenesis imperfecta (AIH1)
Mutations in the amelogenin gene, AMGX, are known to cause X‐linked ameiogenesis 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.
- University of Leeds United Kingdom
- Leeds Teaching Hospitals NHS Trust United Kingdom
- St James's University Hospital United Kingdom
Male, Heterozygote, Amelogenin, Amelogenesis Imperfecta, Genetic Linkage, Tooth Germ, DNA, Exons, Sequence Analysis, DNA, Polymerase Chain Reaction, Pedigree, Dental Enamel Proteins, Gene Expression Regulation, Child, Preschool, Mutation, Humans, Child, Codon, Alleles, Polymorphism, Single-Stranded Conformational
Male, Heterozygote, Amelogenin, Amelogenesis Imperfecta, Genetic Linkage, Tooth Germ, DNA, Exons, Sequence Analysis, DNA, Polymerase Chain Reaction, Pedigree, Dental Enamel Proteins, Gene Expression Regulation, Child, Preschool, Mutation, Humans, Child, Codon, Alleles, Polymorphism, Single-Stranded Conformational
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