Chima-Galán MC, González-Huerta LM, Mata HR, Rivera-Vega MR, Messina-Baas OM, Cuevas-Covarrubias SA, Babayán-Mena I

Language: Spanish
References: 0
Page: 145-148
PDF size: 469.67 Kb.

ABSTRACT

Antecedents: A review of heritable ocular disorders listed over 190 different conditions and some estimates predict that 30% in these disease genes will cause some kind of ocular phenotype. Primary congenital glaucoma (PGC) is caused by unknown developmental defects of the trabecular meshwork and anterior chamber angle of the eye. PCG occurs when the developmental anomalies of the angle prevent adequate drainage of aqueous humor. Recently, several mutations in CYP1B1gene as cause of PCG were characterized.
Material and method: In the present study we analysed a family with 2 affected female cases of PCG. DNA studies were performed through PCR and DNA sequence analysis. We found three polymorphisms within exon 2: one in codon 48 (G355→T) that produces the substitution of arginine instead of valine, one in codon 119 (G355→T) that changes the amino acid serine by alanine and the last one in codon 243 (G729→C) that produces a synonymous mutation (valine by valine). The later mutation was not previously reported. The polymorphisms G355→T and G355→T have been identified in the CYP1B1 gene in other populations.
Conclusions: Although we cannot conclude that PCG are consequence of these polymorphisms, we can state that they are strongly associated with the disease. Further studies will be required to discard this possibility.