title: DNA diagnosis of X-linked amelogenesis imperfecta (AIH1).
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.
authors.affiliation: Molecular Medicine Unit, University of Leeds, St. James's University Hospital, West Yorkshire, United Kingdom.
authors.forename: N J
authors.initials: NJ
authors.lastname: Lench
authors.forename: A H
authors.initials: AH
authors.lastname: Brook
mesh_terms: D000483:Alleles; D000567:Amelogenesis Imperfecta / Q000235:genetics*; D053523:Amelogenin; D002648:Child; D002675:Child, Preschool; D003062:Codon / Q000235:genetics; D004247:DNA / Q000235:genetics*; D003746:Dental Enamel Proteins / Q000235:genetics; D005091:Exons / Q000235:genetics; D005786:Gene Expression Regulation; D008040:Genetic Linkage / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D017422:Sequence Analysis, DNA; D014083:Tooth Germ / Q000378:metabolism; D014960:X Chromosome / Q000235:genetics*
chemical_list: C507199:AMELX protein, human; D053523:Amelogenin; D003062:Codon; D003746:Dental Enamel Proteins; D004247:DNA