title: Contribution of GLC3A locus to Primary Congenital Glaucoma in Pakistani population.
abstract: OBJECTIVE
  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.
authors: Rasheeda Bashir, PhD in Microbiology & Molecular Genetics, Assistant Professor, Department of Biotechnology, Lahore College for Women University, Lahore, Pakistan.
authors: Rasheeda
authors: R
authors: Bashir
authors: Mahrukh Sanai, Student (MS in Biotechnology), University of Veterinary and Animal Sciences, Lahore, Pakistan. Department of Biotechnology, Lahore College for Women University, Lahore, Pakistan.
authors: Mahrukh
authors: M
authors: Sanai
authors: 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.
authors: Adnan
authors: A
authors: Azeem
authors: 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.
authors: Imran
authors: I
authors: Altaf
authors: Faiza Saleem, PhD in Biology, Assistant Professor.
authors: Faiza
authors: F
authors: Saleem
authors: 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.
authors: Sadaf
authors: S
authors: Naz
keywords: Buphthalmos; CYP1B1; GLC3A; Genetic linkage; Primary congenital glaucoma