IOVS Brain
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
QUICK SEARCH:   [advanced]


     

(Investigative Ophthalmology and Visual Science. 2003;44:4200-4203.)
© 2003 by The Association for Research in Vision and Ophthalmology, Inc.
DOI:  10.1167/iovs.02-0945
This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when eLetters are posted
Right arrow Alert me if a correction is posted
Right arrow Citation Map
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Reddy, A. B. M.
Right arrow Articles by Balasubramanian, D.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Reddy, A. B. M.
Right arrow Articles by Balasubramanian, D.

Identification of R368H as a Predominant CYP1B1 Allele Causing Primary Congenital Glaucoma in Indian Patients

Aramati B. M. Reddy,1 Shirly G. Panicker,1 Anil K. Mandal,1 Seyed E. Hasnain,2 and Dorairajan Balasubramanian1

1From the L. V. Prasad Eye Institute, Hyderabad, India; and the 2Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.

PURPOSE. To investigate the predominant mutation in the CYP1B1 gene in patients in India with primary congenital glaucoma (PCG), using PCR-restriction fragment length polymorphism (RFLP) methods and to characterize the molecular defect in two generations of an affected family.

METHODS. DNA samples from 146 patients with PCG from 138 pedigrees were analyzed for several distinct mutations in CYP1B1 by PCR-RFLP.

RESULTS. PCR-RFLP screening revealed that 30.8% of patients were positive for any one of the six mutations (376insA, 528G->A, 923C->T, 959G->A, 1449G->A, and 1514C->A), and 17.8% of the patients were found to have the rarely reported mutation R368H (1449G->A). All mutations were confirmed by DNA sequencing.

CONCLUSIONS. The results suggest extensive allelic heterogeneity in the Indian patients with PCG, with the predominant allele being R368H among the 146 Indian patients tested. It appears possible to use this approach for carrier detection in pedigrees with a positive family history and in population screening. The approach also offers a method for rapid screening of potential carriers and affected individuals.




This article has been cited by other articles:


Home page
 Arch OphthalmolHome page
Y. Chen, D. Jiang, L. Yu, B. Katz, K. Zhang, B. Wan, and X. Sun
CYP1B1 and MYOC Mutations in 116 Chinese Patients With Primary Congenital Glaucoma
Arch Ophthalmol, October 1, 2008; 126(10): 1443 - 1447.
[Abstract] [Full Text] [PDF]

Home page
 Biophys. JHome page
M. S. Achary, A. B. M. Reddy, S. Chakrabarti, S. G. Panicker, A. K. Mandal, N. Ahmed, D. Balasubramanian, S. E. Hasnain, and H. A. Nagarajaram
Disease-Causing Mutations in Proteins: Structural Analysis of the CYP1b1 Mutations Causing Primary Congenital Glaucoma in Humans
Biophys. J., December 15, 2006; 91(12): 4329 - 4339.
[Abstract] [Full Text] [PDF]

Home page
 IOVSHome page
C. Bidinost, N. Hernandez, D. P. Edward, A. Al-Rajhi, R. A. Lewis, J. R. Lupski, D. W. Stockton, and B. A. Bejjani
Of mice and men: tyrosinase modification of congenital glaucoma in mice but not in humans.
Invest. Ophthalmol. Vis. Sci., April 1, 2006; 47(4): 1486 - 1490.
[Abstract] [Full Text] [PDF]

Home page
 IOVSHome page
S. Chakrabarti, K. Kaur, I. Kaur, A. K. Mandal, R. S. Parikh, R. Thomas, and P. P. Majumder
Globally, CYP1B1 Mutations in Primary Congenital Glaucoma Are Strongly Structured by Geographic and Haplotype Backgrounds
Invest. Ophthalmol. Vis. Sci., January 1, 2006; 47(1): 43 - 47.
[Abstract] [Full Text] [PDF]

Home page
 IOVSHome page
S. G. Panicker, A. K. Mandal, A. B. M. Reddy, V. K. Gothwal, and S. E. Hasnain
Correlations of Genotype with Phenotype in Indian Patients with Primary Congenital Glaucoma
Invest. Ophthalmol. Vis. Sci., April 1, 2004; 45(4): 1149 - 1156.
[Abstract] [Full Text] [PDF]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Copyright © 2003 by the Association for Research in Vision and Ophthalmology