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Abstract #10069 Published in IGR 6-1
Genetics and biochemistry of primary congenital glaucoma
Sarfarazi M; Stoilov I; Schenkman JBOphthalmology Clinics of North America 2003; 16: 543-554
Several observations noted by early investigators supported the supposition that in most cases, congenital glaucoma is determined by genetic factors. The genetic heterogeneity of PCG was confirmed by genetic linkage studies conducted in the 1990s when the authors determined that CYP1B1 is the congenital glaucoma gene at the GLC3A locus. The coding sequence of CYP1B1 has been subjected to extensive screening in familial and sporadic cases of glaucoma from numerous countries and from a large number of ethnic groups. These studies have provided evidence for extensive allelic heterogeneity at the GLC3A locus. This article also discusses the molecular evidence for reduced penetration in congenital glaucoma and the phenotypic heterogeneity of CYP1B1 mutations, mouse models of CYP1B1, and the biochemistry of CYP1B1.
Dr. M. Sarfarazi, Molecular Ophthalmology Genetics Laboratory, University of Connecticut Health Center, 263 Farmington Avenue, Farmington, CT 06030, USA
Classification:
1.2 Population genetics (Part of: 1 General aspects)
3.4 Molecular genetics (Part of: 3 Laboratory methods)
