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Abstract #22074 Published in IGR 10-4
Primary congenital glaucoma localizes to chromosome 14q24.21-24.3 in two consanguineous Pakistani families
Firasat S; Riazuddin SA; Hejtmancik JF; Riazuddin SMolecular Vision 2008; 14: 1659-1665
PURPOSE: Two consanguineous Pakistani families with autosomal recessive primary congenital glaucoma were recruited to identify the disease locus. METHODS: Ophthalmic examinations including slit lamp biomicroscopy and applanation tonometry were employed to classify the phenotype. Blood samples were collected and genomic DNA was extracted. A genome wide scan was performed on both families with 382 polymorphic microsatellite markers. Two point LOD scores were calculated, and haplotypes were constructed to define the disease interval. RESULTS: Clinical records and ophthalmic examinations suggest that affected individuals in families PKGL005 and PKGL025 have primary congenital glaucoma. Maximum two-point LOD scores of 5.88 with D14S61 at 0 = 0 and 6.19 with D14S43 at 0 = 0 were obtained for families PKGLOO5 and PKGL025, respectively. Haplotype analysis defined the disease locus as spanning a 6.56 cM (~ 4.2 Mb) genetic interval flanked by D14S289 proximally and D14S85 distally. CONCLUSIONS: Linkage analysis localizes autosomal recessive primary congenital glaucomato chromosome 14q24.2-24.3 in consanguineous Pakistani families.
Dr. S. Riazuddin, National Centre of Excellence in Molecular Biology, 87 West Canal Bank Road, Lahore 53700, Pakistan. riaz@lhr.comsats.net.pk