Molecular analysis for genetic counselling in amelogenesis imperfecta.
OBJECTIVE
To use molecular genetics to establish the mode of inheritance in a family with amelogenesis imperfecta.


METHODS
The polymerase chain reaction was used to amplify exons of the amelogenin gene on the short arm of the X chromosome.


RESULTS
A single base deletion mutation in exon 6 of the amelogenin gene was identified. This mutation was a single base deletion of a cytosine residue - 431delC - in codon 96 of exon 6, introducing a stop codon 30 codons downstream of the mutation in codon 126 of the exon.


CONCLUSIONS
The firm establishment of an X-linked mode of inheritance affects the genetic counselling for this family.
D000567:Amelogenesis Imperfecta / Q000145:classification / Q000235:genetics*; D053523:Amelogenin; D001482:Base Composition / Q000235:genetics; D002648:Child; D018388:Codon, Terminator / Q000235:genetics; D003596:Cytosine; D003746:Dental Enamel Proteins / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D008967:Molecular Biology; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics; D016133:Polymerase Chain Reaction; D014083:Tooth Germ / Q000378:metabolism; D014960:X Chromosome / Q000235:genetics
D053523:Amelogenin; D018388:Codon, Terminator; D003746:Dental Enamel Proteins; D003596:Cytosine