May 2004
Volume 45, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2004
MOLECULAR SCREENING FOR CYP1B1 GENE MUTATIONS AND PHENOTYPIC VARIABILITY IN MEXICAN PRIMARY CONGENITAL GLAUCOMA PATIENTS.
Author Affiliations & Notes
  • O. Niño de Rivera
    Centro de Investigación en Ciencia Aplicada y Tecnología Avanzada. IPN, México, City., Mexico
    Unidad de Investigación en Genética y Biología Molecular,
    Instituto de Oftalmología Conde de Valenciana, México, City., Mexico
  • S. Rodríguez
    Unidad de Investigación en Genética y Biología Molecular,
    Instituto de Oftalmología Conde de Valenciana, México, City., Mexico
  • O. Vázquez
    Unidad de Investigación en Genética y Biología Molecular,
    Instituto de Oftalmología Conde de Valenciana, México, City., Mexico
  • V. Morán
    Unidad de Investigación en Genética y Biología Molecular,
    Instituto de Oftalmología Conde de Valenciana, México, City., Mexico
  • V. Korder
    Departamento de Glaucoma,
    Instituto de Oftalmología Conde de Valenciana, México, City., Mexico
  • K. Hartlebem
    Departamento de Glaucoma,
    Instituto de Oftalmología Conde de Valenciana, México, City., Mexico
  • Footnotes
    Commercial Relationships  O. Niño de Rivera, None; S. Rodríguez, None; O. Vázquez, None; V. Morán, None; V. Korder, None; K. Hartlebem, None.
  • Footnotes
    Support  none
Investigative Ophthalmology & Visual Science May 2004, Vol.45, 4407. doi:
  • Views
  • Share
  • Tools
    • Alerts
      ×
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      O. Niño de Rivera, S. Rodríguez, O. Vázquez, V. Morán, V. Korder, K. Hartlebem; MOLECULAR SCREENING FOR CYP1B1 GENE MUTATIONS AND PHENOTYPIC VARIABILITY IN MEXICAN PRIMARY CONGENITAL GLAUCOMA PATIENTS. . Invest. Ophthalmol. Vis. Sci. 2004;45(13):4407.

      Download citation file:


      © ARVO (1962-2015); The Authors (2016-present)

      ×
  • Supplements
Abstract

Abstract: : Purpose: To identify CYP1B1 gene mutations and their phenotypic expression in Mexican patients suffering from primary congenital glaucoma (PCG). Methods: 20 unrelated Mexican patients suffering from PCG were clinically evaluated by the glaucoma service and after obtaining informed consent were included in the study. The clinical evaluation described phenotypic variability among there. DNA was extracted from leukocytes of the patients, their first grade relatives, and unrelated healthy individuals as controls. Amplicons spanning the coding regions of the CYP1B1 gene, were examined by direct sequencing. Results: Five distinct mutations in 10 patients (50%) were identified, one of them corresponded to homocygote state , four to compound heterozygotes and five were heterozygous (only one mutant allele was detected).. R48G was the most common mutation, accounting for 80% of the individuals examined. Conclusions: Our results indicate that CYP1B1 mutations may be responsibles for the 50% PCG cases in Mexican population.

Keywords: genetics • gene screening • mutations 
×
×

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.

×