Mutation Screening of ۳'UTR and Exons ۱-۲ of VSX۱ gene by PCR-SSCP/HA and Sequencing in Patients with Vernal Keratoconjuctivis (VKC) in Shahrekord

Background and Objective: Vernal Keratoconjuctivis is an immune response in relation to environmental antigens, leading to inflammation of the conjunctiva. One of the presumable genetic factors in VKC is VSX۱ gene. In this study, mutations in exon ۱, exon ۲ and ۳chr('۳۹')UTR of VSX۱ gene in patients with VKC in Shahrekord were investigated by PCR-SSCP and PCR-HA. Materials and Methods: In this cross- sectional study, peripheral blood samples of ۱۰۰ patients with VKC and ۱۰۰ individuals with no confirmed eye disease as control group were investigated. Genomic DNA was extracted by phenol-chloroform method and then PCR was carried out. Then, SSCP and HA were performed and the samples with shifted bands were sequenced for the type of nucleotide change. Afterwards, to investigate the observed nucleotide change, RFLP method was used. Results: Our SSCP findings revealed six patients with shifted band in exons ۱ and ۲ and ۱۳ patients in ۳chr('۳۹')UTR, which were sequenced for nucleotide change. Analysis of sequencing data showed a frameshift change (g. ۲۵۰۵۷۵۶۱delG) in ۳chr('۳۹')UTR. There was no change in other sequences. Conclusion: The findings of this study showed that, VSX۱ gene most probably has no effective role in VKC pathogenesis in the studied population. Therefore, the role of VSX۱ genes in VKC pathogens needs further investigation.

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Keywords: Mutation , Vernal Keratoconjuctivis , VSX۱ gene