Oral diseases · 2002
Molecular analysis for genetic counselling in amelogenesis imperfecta.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Aldred M J, Hall R K, Kilpatrick N, Bankier A, Savarirayan R, Lamandé S R, Lench N J, Crawford P J M
Аннотация
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.
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.