Genetic Basis of Primary Congenital Glaucoma in Pakistani Families
Author Information
Author(s): Firasat Sabika, Riazuddin S. Amer, Hejtmancik J. Fielding, Riazuddin Sheikh
Primary Institution: National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore Pakistan
Hypothesis
The study aims to identify the genetic locus associated with primary congenital glaucoma in two consanguineous Pakistani families.
Conclusion
The study successfully localized autosomal recessive primary congenital glaucoma to chromosome 14q24.2–24.3 in two consanguineous Pakistani families.
Supporting Evidence
- Maximum two-point LOD scores of 5.88 and 6.19 were obtained for families PKGL005 and PKGL025, respectively.
- The disease locus was defined as spanning a 6.56 cM (~4.2 Mb) genetic interval.
- Clinical records indicated that affected individuals exhibited symptoms of primary congenital glaucoma.
Takeaway
This study found that a specific part of chromosome 14 is linked to a type of glaucoma that affects babies in two families from Pakistan.
Methodology
The study involved ophthalmic examinations, blood sample collection, genomic DNA extraction, and a genome-wide scan using 382 polymorphic microsatellite markers.
Limitations
The study did not identify any pathogenic mutations in the COQ6 gene despite sequencing efforts.
Participant Demographics
Participants were from two consanguineous families in the Punjab province of Pakistan.
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