RESUMEN

This study investigated the atopic march on the basis of genetics. This research detected 227 variants in the filaggrin gene (FLG gene). Missense, silent, non-sense, frame-shift and non-coding mutations were detected in exon 3 of the FLG gene in patients with bronchial asthma, atopic dermatitis, allergic rhinitis and mixed atopy. Missense mutation was detected at c.8343 G > C (p. Asp2781Glu) in all adult asthmatic and allergic rhinitis patients. Whereas, mutation at c.8360 C > T/A (p. Arg2787 His/Leu) was detected in all childhood asthmatic and mixed atopic patients. A non-coding mutation was detected at c.12365 in atopic dermatitis and bronchial asthma patients. Furthermore, DNA sequencing of asthmatic and mixed atopic patients showed missense mutations at c.6073 C > T (p. Gly2025Glu) and a silent mutation at c. 8341 G > A (p. Asp2781Asp).

Asunto(s)

Asma/genética , Dermatitis Atópica/genética , Exones/genética , Proteínas de Filamentos Intermediarios/genética , Mutación , Rinitis Alérgica/genética , Adulto , Codón sin Sentido , Femenino , Proteínas Filagrina , Mutación del Sistema de Lectura , Predisposición Genética a la Enfermedad/genética , Humanos , Masculino , Persona de Mediana Edad , Mutación Missense