ArticleJournal of ophthalmic & vision research
P.Gly61Glu and P.Arg368His Mutations in CYP1B1 that Cause Congenital Glaucoma may be Relatively Frequent in Certain Regions of Gilan Province, Iran.
Article in Journal of ophthalmic & vision research. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 6 citations in OpenAlex.
- A novel indel CYP1B1 variant in a large multigenerational Pakistani family expands the mutation spectrum of primary congenital glaucoma.Molecular biology reports · 2025Article
- Investigating Genetic Factors Contributing to Variable Expressivity of Class I 17p13.3 Microduplication.International journal of molecular and cellular medicine · 2020Article
- Targeted Screening for Predominant CYP1B1 Mutations in Primary Congenital Glaucoma.Journal of ophthalmic & vision researchArticle
- Carrier Status for p.Gly61Glu and p.Arg368HisJournal of ophthalmic & vision researchArticle
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Authors and funding
4 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo perform a population-based screening of four
methodsDNA was extracted from the blood samples of 700 individuals recruited in a population-based epidemiology study in Gilan. Screenings were performed using polymerase chain reaction protocols based on restriction fragment length polymorphism or the amplification-refractory mutation system. For confirmation, the DNA of individuals with mutations was sequenced using the Sanger protocol.
resultsFive individuals carried the p.Gly61Glu mutation, and seven carried the p.Arg368His mutation. The p.Arg390His and p.Arg469Trp mutations were not observed in any of the 700 individuals screened. The mutations were not geographically randomly distributed in Gilan; four of the p.Gly61Glu-harboring individuals were from Talesh, and six of the p.Arg368His-harboring individuals were from the eastern regions of Gilan.
conclusionThe frequency of individuals who carry either p.Gly61Glu or p.Arg368His is relatively high in Gilan, and notably high in certain localities within Gilan. We suggest further screenings be performed to definitively assess the need for implementing measures to encourage screening for p.Gly61Glu and p.Arg368His before marriage in Talesh and the eastern regions of Gilan, respectively. Finally, our assessment showed that regional frequencies of
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