Display options
Cite
Bashir R, Sanai M, Azeem A, et al. Contribution of GLC3A locus to Primary Congenital Glaucoma in Pakistani population. Pak J Med Sci. 2014;30(6):1341-5doi: 10.12669/pjms.306.5771.
Bashir, R., Sanai, M., Azeem, A., Altaf, I., Saleem, F., & Naz, S. (2014). Contribution of GLC3A locus to Primary Congenital Glaucoma in Pakistani population. Pakistan journal of medical sciences, 30(6), 1341-5. https://doi.org/10.12669/pjms.306.5771
Bashir, Rasheeda, et al. "Contribution of GLC3A locus to Primary Congenital Glaucoma in Pakistani population." Pakistan journal of medical sciences vol. 30,6 (2014): 1341-5. doi: https://doi.org/10.12669/pjms.306.5771
Bashir R, Sanai M, Azeem A, Altaf I, Saleem F, Naz S. Contribution of GLC3A locus to Primary Congenital Glaucoma in Pakistani population. Pak J Med Sci. 2014 Nov-Dec;30(6):1341-5. doi: 10.12669/pjms.306.5771. PMID: 25674135; PMCID: PMC4320727.
Copy Download .nbib Format: NLM
Share it on

Pak J Med Sci. 2014 Nov-Dec;30(6):1341-5. doi: 10.12669/pjms.306.5771.

Contribution of GLC3A locus to Primary Congenital Glaucoma in Pakistani population.

Pakistan journal of medical sciences

Rasheeda Bashir, Mahrukh Sanai, Adnan Azeem, Imran Altaf, Faiza Saleem, Sadaf Naz

Affiliations

  1. Rasheeda Bashir, PhD in Microbiology & Molecular Genetics, Assistant Professor, Department of Biotechnology, Lahore College for Women University, Lahore, Pakistan.
  2. Mahrukh Sanai, Student (MS in Biotechnology), University of Veterinary and Animal Sciences, Lahore, Pakistan. Department of Biotechnology, Lahore College for Women University, Lahore, Pakistan.
  3. Adnan Azeem, FCPS in Ophthalmology, Senior Registrar, Eye Dept at Mayo Hospital, Ophthalmology Department, Mayo hospital, Hospital Road, Lahore, Pakistan. Department of Biotechnology, Lahore College for Women University, Lahore, Pakistan.
  4. Imran Altaf, PhD in Microbiology, Assistant Professor, WTO, QOL, University of Veterinary and Animal Sciences, Lahore, Pakistan. Department of Biotechnology, Lahore College for Women University, Lahore, Pakistan.
  5. Faiza Saleem, PhD in Biology, Assistant Professor.
  6. Sadaf Naz, PhD in Molecular Biology, Associate Professor, School of Biological Sciences, University of the Punjab, Quaid-i-Azam Campus, Lahore 54590, Pakistan. Department of Biotechnology, Lahore College for Women University, Lahore, Pakistan.

PMID: 25674135 PMCID: PMC4320727 DOI: 10.12669/pjms.306.5771

Abstract

OBJECTIVES: To check the contribution of GLC3A locus to primary congenital glaucoma in the Pakistani population.

METHODS: We enrolled twenty-nine sporadic cases and three families with multiple individuals affected with recessive primary congenital glaucoma in the year 2013. It was a genetic linkage study accomplished jointly in Department of Biotechnology of Lahore College for Women University and School of Biological Sciences, University of the Punjab, Lahore. Samples from all affected individuals were checked for homozygosity for alleles of microsatellite markers spanning CYP1B1 at GLC3A locus. Genotyping was performed with fluorescently labeled primers by capillary electrophoresis. For familial cases, linkage was evaluated by checking the co-segregation of the phenotype with the genotypes. Two-point LOD score was calculated for each microsatellite marker with MLINK.

RESULTS: Our study revealed that GLCA3 may contribute to glaucoma in 17% of the sporadic cases and patients in 2 of the 3 families.

CONCLUSIONS: This data suggests that the GLC3A may make an important contribution to autosomal recessive primary congenital glaucoma in the Pakistani population. Genotyping and Sequencing of more families will be helpful to identify the common mutations in CYP1B1 in future.

Keywords: Buphthalmos; CYP1B1; GLC3A; Genetic linkage; Primary congenital glaucoma

References

  1. Invest Ophthalmol Vis Sci. 2002 Jun;43(6):1820-7 - PubMed
  2. Mol Vis. 2011;17:2911-9 - PubMed
  3. Am J Hum Genet. 2009 May;84(5):664-71 - PubMed
  4. Hum Hered. 1994 Jul-Aug;44(4):225-37 - PubMed
  5. J Med Genet. 2003 Jan;40(1):e9 - PubMed
  6. J Med Genet. 1999 Apr;36(4):290-4 - PubMed
  7. Nucleic Acids Res. 1989 Oct 25;17(20):8390 - PubMed
  8. Mol Vis. 2008;14:2002-9 - PubMed
  9. Invest Ophthalmol Vis Sci. 2006 Jan;47(1):43-7 - PubMed
  10. Ophthalmologica. 1980;181(2):61-73 - PubMed
  11. Am J Hum Genet. 1998 Feb;62(2):325-33 - PubMed
  12. Middle East Afr J Ophthalmol. 2011 Jan;18(1):7-16 - PubMed
  13. Hum Mol Genet. 1997 Apr;6(4):641-7 - PubMed
  14. J Ophthalmic Vis Res. 2009 Apr;4(2):75-8 - PubMed
  15. Am J Hum Genet. 1998 Mar;62(3):573-84 - PubMed
  16. Genomics. 1995 Nov 20;30(2):171-7 - PubMed

Publication Types