کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3121502 1583380 2008 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Identifying polymorphism in enamelin gene in amelogenesis imperfecta (AI)
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی دندانپزشکی، جراحی دهان و پزشکی
پیش نمایش صفحه اول مقاله
Identifying polymorphism in enamelin gene in amelogenesis imperfecta (AI)
چکیده انگلیسی

Amelogenesis imperfecta (AI) is a developmental defect of dental enamel formation. This enamel defect can be caused by mutation in ENAM gene. Hence this study investigated the molecular defect in the enamelin gene in a patient with the clinical features of AI. The genomic DNA was extracted from patient's whole blood samples and the DNA was subjected to the polymerase chain reaction (PCR) in the presence of 16 pairs of oligonucleotide primers specifically designed to amplify all the 10 exons, g2382, g6395 and g8344 of the enamelin (ENAM) gene in the long arm of the chromosome 4. The PCR products were gel purified and sequenced to identify any mutation. The ENAM gene sequences from the patient were aligned with the reference sequence (GenBank accession no. AY167999) using VectorNTI software. We identified a single base difference at location g359 A → G on exon 1 between the reference sequence and patient's sequence. We successfully ruled out any possible mutation on exon 2, exon 3, exon 4, exon 5, exon 6, exon 7, exon 8, exon 9, exon 10, g2382, g6395 and g8344.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Archives of Oral Biology - Volume 53, Issue 10, October 2008, Pages 937–940
نویسندگان
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