Article ID Journal Published Year Pages File Type
9219940 Pediatric Dental Journal 2005 6 Pages PDF
Abstract
Ameloblastin is one of the extracellular matrix proteins in tooth enamel and may be responsible for autosomal amelogenesis imperfecta (AI), since it plays a significant role in enamel crystal growth. We investigated polymorphisms of the human ameloblastin gene by polymerase chain reaction, DNA sequencing and single-strand conformational polymorphism (SSCP) analysis using genomic DNA from 50 Japanese subjects with sound dentition. One single sequential trinucleotide deletion and 3 single-nucleotide polymorphisms (SNPs) were identified in the translated region. The nucleotide deletion results in the lack of an amino acid residue and 2 of the SNPs cause nonsynonymous substitutions of amino acid residues. These results provide important background information for the investigation of autosomal AI in Japanese patients.
Related Topics
Health Sciences Medicine and Dentistry Dentistry, Oral Surgery and Medicine
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