Abstract:
Cataract is a grey area of the lens of eye that causes blurred vision. Cataract occurs slowly and can influence one or both eyes. It is the cause of blindness and reversible visual impairment. The illness is most dominant in developing countries and populations with lower socioeconomic position. Symptoms are trouble with bright lights, blurry eyesight, faded colors and difficulty seeing at night. About 8 families having three or more affected members with cataract will be identified and enrolled from different district of Punjab. A questionnaire based on Cataract phenotype in different families of Punjab will be designed and filled out by the participants of the study to get all the information. 5ml blood will be drawn. The genomic DNA will be extracted by using phenol chloroform method. After extraction, DNA will be quantified by using UV spectrophotometer. Screening for novel missense mutation (c.2819C>T, p.T940I, rs137853200) of gene EPHA2 will be performed by using tetra arms PCR. This study concluded that all individuals of this research are mutant for (c.2819C>T (p.T940I)) mutation. Which mean this EPHA2 gene mutation is not a causative agent of the disease in these families. This study clarifies that there were no association between EPHA2 gene mutation and Cataract.
Page(s):
283-283
DOI:
DOI not available
Published:
Journal: Abstract Book on International Conference on Food and Applied Sciences (ICFAS-23) 3-5 August 23, Volume: 0, Issue: 0, Year: 2023