Molecular analysis for genetic counselling in amelogenesis imperfecta
M J Aldred1, R K Hall, N Kilpatrick
1Department of Dentistry, Royal Children's Hospital, Melbourne, Australia. michael_aldred@bigpond.com
Objective:
To use molecular genetics to establish the mode of inheritance in a family with amelogenesis imperfecta.
Materials And 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.
Conclusion:
The firm establishment of an X-linked mode of inheritance affects the genetic counselling for this family.
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