DNA diagnosis of X-linked amelogenesis imperfecta (AIH1)

Mutations in the amelogenin gene, AMGX, are known to cause X‐linked ameiogenesis imperfecta (AIH1). We have used DNA single‐strand conformational polymorphism analysis and DNA sequencing to diagnose this disorder unequivocally in two related boys aged 3 and 7 years, respectively, from a family in wh...

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Bibliographic Details
Published in:Journal of oral pathology & medicine 1997-03, Vol.26 (3), p.135-137
Main Authors: Lench, Nicholas J., Brook, Alan H.
Format: Article
Language:English
Subjects:
AIH1
Alleles
amelogenesis imperfecta
Amelogenesis Imperfecta - genetics
Amelogenin
Biological and medical sciences
Child
Child, Preschool
Codon - genetics
Dental Enamel Proteins - genetics
Dentistry
DNA - genetics
DNA sequencing
Exons - genetics
Facial bones, jaws, teeth, parodontium: diseases, semeiology
Gene Expression Regulation
Genetic Linkage - genetics
Heterozygote
Humans
Male
Medical sciences
Mutation - genetics
Non tumoral diseases
Otorhinolaryngology. Stomatology
Pedigree
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational
Sequence Analysis, DNA
SSCP analysis
Tooth Germ - metabolism
X Chromosome - genetics
XA1
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Summary:Mutations in the amelogenin gene, AMGX, are known to cause X‐linked ameiogenesis imperfecta (AIH1). We have used DNA single‐strand conformational polymorphism analysis and DNA sequencing to diagnose this disorder unequivocally in two related boys aged 3 and 7 years, respectively, from a family in which an existing mutation in the amelogenin gene is segregating.
ISSN:0904-2512
1600-0714
DOI:10.1111/j.1600-0714.1997.tb00036.x