ASSOCIATION BETWEEN EXON 5 OF PAX6 GENE POLYMORPHISM AND CONGENITAL CATARACT IN NORTH INDIA
European Journal of Molecular & Clinical Medicine,
2020, Volume 7, Issue 8, Pages 4847-4854
AbstractBackground: Congenital cataract is among most common treatable causes of visual impairment and blindness during infancy amounting to 10% of all vision loss worldwide.
Aim: Our aim was to determine association of PAX-6 gene in congenital cataract patients and their normal parents in North India.
Setting and Design: It was clinical prospective hospital based study done at a Tertiary care centre.
Material and Method: Forty five patients were enrolled as cases and 89 parents as controls. Ethical clearance was obtained and written and informed consent was taken from all parents. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was done in both groups to find out PAX 6 gene polymorphisms. All cases underwent cataract extraction bilaterally in different sittings followed by intraocular lens implantation.
Results: A total of 45 patients were taken who suffered from bilateral congenital cataract. These comprised of 35 males (77.7%) and 10 (22.2%) females with sex ratio of 3.5:1. We screened exon5 of PAX6 gene for novel polymorphisms that could be used to detect an association of PAX6 gene with congenital cataract patients and their parents. Unfortunately, no polymorphism in patient affected with congenital cataract was observed in contrast to other studies which demonstrated positive association in South Asian population.
Conclusion: Further work in this study is required and may possibly let us a peep into the role of PAX6 in the development of eye and its association with the congenital cataract in this country.
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