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María Claudia Berrocal

Adriana Cavender

Lorenza Jaramillo

Ignacio Briceño

Mónica Melo

Rena D’Souza

Abstract

Mutaciones en los genes que participanen el desarrollo del esmalte dental, como amelogenina (AMEL) y enamelina (ENAM) entre otras, causan amelogénesis imperfecta (AI). OBJETIVO: establecer las mutaciones presentes en el gen AMEL y el modo deherencia en una familia colombiana con AI. MATERIALES Y MÉTODOS: se realizó un pedigree de la familia, evaluación clínica y extracción del ADN de sangre periférica a los individuos participantes. La reacción en cadena de la polimerasa (PCR) fue usada para amplificar los 7 exones del gen AMEL en el brazo corto del cromosoma X y análisis de SSCP fueron realizados en los exones 5 y 6. Electroforesis en gel de poliacrilamida al 6% no denaturantes fueron hechas. Para confirmar ausencia o presencia demutaciones se hizo secuenciamiento de los productos de PCR de los 7 exones. RESULTADOS: el análisis del pedigree mostró un mecanismo de herencia ligado a X y el fenotipo dental observado en los probandos, correspondió a un defecto de tipo hipoplásico. No se identificaron mutaciones en los siete exones del gen amelogenina. CONCLUSIÓN: esta condición tiene gran heterogeneidad genética y posiblemente el fenotipo encontrado esté más relacionado con mutaciones en otros genes concernientes a la formación del esmalte. Mutations of the genes which participate in the enamel development such as amelogenine (AMEL) and enameline (ENAM) among others cause Amelogenesis Imperfecta (A.I). OBJECTIVES: Establish the mutations present in the AMEL gene and the means of inheritage in a Colombian family with A.I. MATERIALS AND METHODS: family pedigree, clinical evaluation and peripheric DNA genomic blood extraction was performed to each of the participating individuals. PCR was used to amplify the 7 exons of the amelogenine gene in the short arm of the X chromosome. SSCP analysis was carried out in the 5 and 6 exons. Gel electrophoresis with non denaturalizing 6% polyacrilamide were carried out to confirm the presence or absence of mutations in the AMEL gene, after which the sequencing of the 7 exon PCR products was performed. RESULTS: the pedigree analysis showed an X heritage linked mechanism. The dental phenotype observed in the proband corresponded to a hypoplastic type defect. There were no identified mutations at a molecular level in the 7 exons of the amelogenine gene. CONCLUSION: this condition has great genetic heterogeneticity and possibly the phenotype found is more related with mutations in other genes linked to the formation of the dental enamel.

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Keywords
References
1. Uchida T, Tanabe Y, Fukae M, Shimizu M. Immunocytochemical and immunochemical detection of a 32 kDa nonamelogenin and related proteins in porcine tooth germs. Arch Histol Cytol 1991; 54: 527-38.

2. Robinson C, Shore RC, Kirkham J, Stonehouse NJ. Extracellular processing of enamel matrix proteins and the control of crystal growth. J Biol Buccale 1990; 18: 355-61.

3. Witkop CJ. Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification. J Oral Pathol 1989; 17: 547-53.

4. Online Mendelian Inheritance in Man, http://
www.ncbi.nlm.nih/entrez/OMIM.

5. Lench NJ, Brook AH. DNA Diagnosis of linked amelogenesis imperfecta (AIHI). Journal of Oral Pathology and Medicine 1997: 26: 135-7.

6. Crawford PJM, Aldred MJ. X-linked amelogenesis imperfecta. Presentation of two Kindreds and a review of the literature. Oral Surg Oral Med Oral Pathol 1992; 73: 445-9.

7. Hart PS, Hart TC, Simmer JP. Wrigth JT. Establishment of a nomenclature for X-linked amelogenesis imperfecta. Arch Oral Biol 2002; 9: 19-23.

8. Lagerstrom-Fermer M. Nilson M, Backman B et al. Amelogenin signal peptide mutation: Correlation between mutations in the amelogenin gene (AMGX) and manifestations of X-linked amelogenesis imperfecta. Genomics 1995; B26: B159-62.

9. Witkop CJ Jr. Partial expression of sex-linked recessive amelogenesis imperfecta in females compatible with the lyon hipotesis. Oral Surg Oral Med Oral Pathol 1967:23: 174-82.

10. Lyon MF. Gene action in the X-chromosome of the mouse mus musculus L. Nature 1961; 190: 372-3.

11. Hart PS, Hart TC, Gibson C, Wright JT. Mutational analysis of X-linked amelogenesis imperfecta in multiple families. Arch Oral Biol 2000; 47: 255-60.

12. Witkop CJ Jr. Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification. J Oral Pathol 1989; 17: 547-53.

13. Wright JT, Hart PS, Aldred MJ, Seow K, Crawford PJ, Hong SP et al. Relationship of phenotype and genotype in X-linked amelogenesis imperfecta. Connect Tisssue Res 2003; 44: 72-8.

14. Ravassipour DB, Hart S, Hart TC, Ritter AV et al. Unique enamel phenotype associated with amelogenin gene (AMELX) codon 41 point mutation. J Dent. Res 2000; 79:1476-81.
How to Cite
Berrocal, M., Cavender, A., Jaramillo, L., Briceño, I., Melo, M., & D’Souza, R. (2015). Análisis mutacional del gen AMEL en una familia con amelogénesis imperfecta / Mutational Analysis in the AMEL Gene a Family with Amelogenesis Imperfecta. Universitas Odontologica, 25(57), 14-18. Retrieved from https://revistas.javeriana.edu.co/index.php/revUnivOdontologica/article/view/6397
Section
Basic Sciences, Biotechnology and Bioinformatics
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