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Molecular analysis for genetic counselling in amelogenesis imperfecta
Author(s) -
Aldred MJ,
Hall RK,
Kilpatrick N,
Bankier A,
Savarirayan R,
Lamandé SR,
Lench NJ,
Crawford PJM
Publication year - 2002
Publication title -
oral diseases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.953
H-Index - 87
eISSN - 1601-0825
pISSN - 1354-523X
DOI - 10.1034/j.1601-0825.2002.02835.x
Subject(s) - amelogenesis imperfecta , amelogenin , exon , genetics , gene , cytosine , mutation , biology , stop codon , medicine , dentistry , enamel paint
OBJECTIVE: To use molecular genetics to establish themode 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.