Molecular Screening of Rhodopsin and Peripherin/RDS Genes in Mexican Families with Autosomal Dominant Retinitis Pigmentosa
Por:
Matias-Florentino M., Ayala-Ramirez R., Graue-Wiechers F., Zenteno J.C.
Publicada:
1 ene 2009
Resumen:
Objective: Autosomal dominant (AD) inheritance accounts for 15-20% of retinitis pigmentosa (RP) familial cases. The characterization of AD RP-related mutations remains essential because it pro vides both accurate diagnosis and clinically important prognostic information. Rhodopsin ( RHO) and peripherin/RDS are the two most common mutated genes in AD RP in several series. However, the genetic characterization of patients from distinct ethnic groups will help to define the relative contribution of particular AD RP-related genes. In the present study, a search for causal mutations in RHO and peripherin/RDS in a group of 28 Mexican RP probands with AD inheritance was performed. Methods: Methods included complete ophthalmologic examination as well as fluorangiographic and electroretinographic assessment. Molecular analysis included Polymerase (PCR) amplification and direct nucleotide sequencing of the coding exons of RHO and peripherin/RDS in DNA from affected subjects. Mutation-carrying ex
Filiaciones:
Matias-Florentino M.:
Research Unit, Institute of Ophthalmology, Conde de Valenciana, Mexico City, Mexico
Ayala-Ramirez R.:
Retina Department, Institute of Ophthalmology, Conde de Valenciana, Mexico City, Mexico
Graue-Wiechers F.:
Retina Department, Institute of Ophthalmology, Conde de Valenciana, Mexico City, Mexico
Zenteno J.C.:
Univ Nacl Autonoma Mexico, Fac Med, Dept Biochem, Mexico City 04510, DF, Mexico
|