Skip Navigation

This Article
Right arrow Full Text Freely available
Right arrow FREE Full Text (PDF) Freely available
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in ISI Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (88)
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Akarsu, A. N.
Right arrow Articles by Sarfarazi, M.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Akarsu, A. N.
Right arrow Articles by Sarfarazi, M.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

Human Molecular Genetics, Vol 5, 1199-1203, Copyright © 1996 by Oxford University Press

ARTICLES

A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region

AN Akarsu, ME Turacli, SG Aktan, M Barsoum-Homsy, L Chevrette, BS Sayli and M Sarfarazi
Department of Surgery, University of Connecticut Health Center, Farmington, USA.

Primary congenital glaucoma (gene symbol: GLC3) is an ocular disorder that occurs for 0.01-0.04% of blind people. In the majority of familial cases reported so far, this condition is inherited as an autosomal recessive trait. We have recently used a group of 17 GLC3 families with a minimum of two affected offspring and consanguinity in most of the parental generation and mapped the first GLC3 locus (GLC3A) to the 2p21 region. Six families did not show any linkage to the GLC3A locus and thus provided evidence for genetic heterogeneity of this disorder. A total of eight families unlinked to the 2p21 region were used to search for the chromosomal location of the second GLC3 locus. Herein, we describe mapping of a new locus (designated GLC3B) for primary congenital glaucoma to the short arm of chromosome 1 (1p36.2-36.1) that is situated centromeric to the neuroblastoma and Charcot-Marie-Tooth type 2A (CMT2A) loci. A total of 17 DNA markers were genotyped from this region of chromosome 1. Four families showed no recombination with the two markers D1S2834 and D1S402 with a maximum lod score of 4.510 and 4.157 respectively. Pairwise and multipoint linkage analysis and inspection of the haplotypes revealed that the remaining four families are not linked to this part of chromosome 1, thus providing further evidence that at least one more locus for the autosomal recessive form of GLC3 must exist in the genome. Based on the recombination events, the overall linkage map of this region is: tel-D1S1192-D1S1635-D1S1193 - (D1S1597/-D1S489/D1S228)- [GLC3B/D1S2834/D1S402] - (D1S1176/D1S507/D1S407) - D1S2728-(MFAP2/D1S170) - D1S1368 - D1S436- D1S1592-cen.
Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 Hum Mol GenetHome page
M. Narooie-Nejad, S. H. Paylakhi, S. Shojaee, Z. Fazlali, M. Rezaei Kanavi, N. Nilforushan, S. Yazdani, F. Babrzadeh, F. Suri, M. Ronaghi, et al.
Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma
Hum. Mol. Genet., October 15, 2009; 18(20): 3969 - 3977.
[Abstract] [Full Text] [PDF]

Home page
 IOVSHome page
S. Chakrabarti, K. Kaur, K. N. Rao, A. K. Mandal, I. Kaur, R. S. Parikh, and R. Thomas
The Transcription Factor Gene FOXC1 Exhibits a Limited Role in Primary Congenital Glaucoma
Invest. Ophthalmol. Vis. Sci., January 1, 2009; 50(1): 75 - 83.
[Abstract] [Full Text] [PDF]

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
 IOVSHome page
J. Kuchtey, M. E. Kallberg, K. N. Gelatt, T. Rinkoski, A. M. Komaromy, and R. W. Kuchtey
Angiopoietin-like 7 Secretion Is Induced by Glaucoma Stimuli and Its Concentration Is Elevated in Glaucomatous Aqueous Humor
Invest. Ophthalmol. Vis. Sci., August 1, 2008; 49(8): 3438 - 3448.
[Abstract] [Full Text] [PDF]

Home page
 J. Mol. Diagn.Home page
F. Chitsazian, B. K. Tusi, E. Elahi, H. A. Saroei, M. H. Sanati, S. Yazdani, M. Pakravan, N. Nilforooshan, Y. Eslami, M. A. Z. Mehrjerdi, et al.
CYP1B1 Mutation Profile of Iranian Primary Congenital Glaucoma Patients and Associated Haplotypes
J. Mol. Diagn., July 1, 2007; 9(3): 382 - 393.
[Abstract] [Full Text] [PDF]

Home page
 Arch OphthalmolHome page
J. L. Wiggs
Genetic Etiologies of Glaucoma
Arch Ophthalmol, January 1, 2007; 125(1): 30 - 37.
[Abstract] [Full Text] [PDF]

Home page
 Arch OphthalmolHome page
J. Wu, A. W. Hewitt, C. M. Green, M. A. Ring, P. J. McCartney, J. E. Craig, and D. A. Mackey
Disease Severity of Familial Glaucoma Compared With Sporadic Glaucoma
Arch Ophthalmol, July 1, 2006; 124(7): 950 - 954.
[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
J. C. Charlesworth, T. D. Dyer, J. M. Stankovich, J. Blangero, D. A. Mackey, J. E. Craig, C. M. Green, S. J. Foote, P. N. Baird, and M. M. Sale
Linkage to 10q22 for Maximum Intraocular Pressure and 1p32 for Maximum Cup-to-Disc Ratio in an Extended Primary Open-Angle Glaucoma Pedigree
Invest. Ophthalmol. Vis. Sci., October 1, 2005; 46(10): 3723 - 3729.
[Abstract] [Full Text] [PDF]

Home page
 IOVSHome page
T. Rezaie, D. M. Waitzman, J. L. Seeman, P. L. Kaufman, and M. Sarfarazi
Molecular Cloning and Expression Profiling of Optineurin in the Rhesus Monkey
Invest. Ophthalmol. Vis. Sci., July 1, 2005; 46(7): 2404 - 2410.
[Abstract] [Full Text] [PDF]

Home page
 Br J OphthalmolHome page
J D McKay, B Patterson, J E Craig, I M Russell-Eggitt, M G Wirth, K P Burdon, A W Hewitt, A C Cohn, Y Kerdraon, and D A Mackey
The telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genes
Br J Ophthalmol, July 1, 2005; 89(7): 831 - 834.
[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 page
 IOVSHome page
A. B. M. Reddy, S. G. Panicker, A. K. Mandal, S. E. Hasnain, and D. Balasubramanian
Identification of R368H as a Predominant CYP1B1 Allele Causing Primary Congenital Glaucoma in Indian Patients
Invest. Ophthalmol. Vis. Sci., October 1, 2003; 44(10): 4200 - 4203.
[Abstract] [Full Text] [PDF]

Home page
 Br J OphthalmolHome page
Y Ohtake, T Tanino, Y Suzuki, H Miyata, M Taomoto, N Azuma, H Tanihara, M Araie, and Y Mashima
Phenotype of cytochrome P4501B1 gene (CYP1B1) mutations in Japanese patients with primary congenital glaucoma
Br J Ophthalmol, March 1, 2003; 87(3): 302 - 304.
[Abstract] [Full Text] [PDF]

Home page
 IOVSHome page
I. R. Stoilov, V. P. Costa, J. P. C. Vasconcellos, M. B. Melo, A. J. Betinjane, J. C. E. Carani, E. V. Oltrogge, and M. Sarfarazi
Molecular Genetics of Primary Congenital Glaucoma in Brazil
Invest. Ophthalmol. Vis. Sci., June 1, 2002; 43(6): 1820 - 1827.
[Abstract] [Full Text] [PDF]

Home page
 IOVSHome page
S. G. Panicker, A. B. M. Reddy, A. K. Mandal, N. Ahmed, H. A. Nagarajaram, S. E. Hasnain, and D. Balasubramanian
Identification of Novel Mutations Causing Familial Primary Congenital Glaucoma in Indian Pedigrees
Invest. Ophthalmol. Vis. Sci., May 1, 2002; 43(5): 1358 - 1366.
[Abstract] [Full Text] [PDF]

Home page
 IOVSHome page
Y. Mashima, Y. Suzuki, Y. Sergeev, Y. Ohtake, T. Tanino, I. Kimura, H. Miyata, M. Aihara, H. Tanihara, M. Inatani, et al.
Novel Cytochrome P4501B1 (CYP1B1) Gene Mutations in Japanese Patients with Primary Congenital Glaucoma
Invest. Ophthalmol. Vis. Sci., September 1, 2001; 42(10): 2211 - 2216.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
S N. Martin, J. Sutherland, A. V Levin, R. Klose, M. Priston, and E. Héon
Molecular characterisation of congenital glaucoma in a consanguineous Canadian community: a step towards preventing glaucoma related blindness
J. Med. Genet., June 1, 2000; 37(6): 422 - 427.
[Abstract] [Full Text]

Home page
 J. Med. Genet.Home page
M. Plásilová, I. Stoilov, M. Sarfarazi, L. Kádasi, E. Feráková, and V. Ferák
Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma
J. Med. Genet., April 1, 1999; 36(4): 290 - 294.
[Abstract] [Full Text]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.