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Identifying polymorphism in enamelin gene in amelogenesis imperfecta (AI)
V K Gopinath1, Tan Pang Yoong, Chan Yean Yean
1College of Dentistry, University of Sharjah, P.O. Box. 27272, Sharjah, United Arab Emirates. gopinathvk@yahoo.com
Archives of Oral Biology
|May 10, 2008
Summary
This study identified a specific mutation in the enamelin (ENAM) gene in a patient with Amelogenesis imperfecta (AI). This finding helps understand the genetic causes of this dental enamel defect.
Area of Science:
- Genetics
- Developmental Biology
- Dentistry
Background:
- Amelogenesis imperfecta (AI) is a group of inherited disorders affecting dental enamel formation.
- Mutations in the enamelin (ENAM) gene are a known cause of AI, impacting enamel structure and integrity.
Observation:
- Genomic DNA from a patient exhibiting AI symptoms was analyzed.
- Polymerase chain reaction (PCR) amplified all 10 exons and specific regions of the ENAM gene.
- Sequencing and alignment revealed a single base difference (A to G at g359) in exon 1 compared to the reference sequence.
Findings:
- A novel mutation, A-->G at g359 in exon 1 of the ENAM gene, was identified in the AI patient.
- Mutations in other exons and specific regions of the ENAM gene were excluded.
- This specific genetic alteration is linked to the observed enamel defects.
Implications:
- This discovery contributes to the understanding of the genetic basis of Amelogenesis imperfecta.
- Identifies a specific ENAM gene mutation for potential diagnostic and genetic counseling purposes.
- Provides a molecular basis for the enamel defects observed in the patient, aiding future research into AI pathogenesis.
