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  • Title: Molecular analysis for genetic counselling in amelogenesis imperfecta.
    Author: Aldred MJ, Hall RK, Kilpatrick N, Bankier A, Savarirayan R, Lamandé SR, Lench NJ, Crawford PJ.
    Journal: Oral Dis; 2002 Sep; 8(5):249-53. PubMed ID: 12363109.
    Abstract:
    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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