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Heshmati A, Taghizadeh P, Ahmadieh H, Yaseri M, Suri F, Alizadeh M, Dadashzadeh M, Khatami H, Moradkhah Navi M, Zamanparvar P, Behboudi H, Elahi E. Carrier Status for p.Gly61Glu and p.Arg368His CYP1B1 Mutations Causing Primary Congenital Glaucoma in Iran. JOVR [Internet]. 2021Oct.25 [cited 2024Jul.27];16(4):574–581. Available from: https://knepublishing.com/index.php/JOVR/article/view/9747

https://doi.org/10.18502/jovr.v16i4.9747

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authors

  • Ali Heshmati

    Ali Heshmati

    School of Biology, University College of Science, University of Tehran, Tehran, Iran
  • Peyman Taghizadeh

    Peyman Taghizadeh

    School of Biology, University College of Science, University of Tehran, Tehran, Iran
  • Hamid Ahmadieh

    Hamid Ahmadieh

    Ophthalmic Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  • Mehdi Yaseri

    Mehdi Yaseri

    Department of Epidemiology and Biostatistics, School of Public Health, Tehran University of Medical Sciences, Tehran, Iran
  • Fatemeh Suri

    Fatemeh Suri

    Ophthalmic Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  • Mahsa Alizadeh

    Mahsa Alizadeh

    Astaneh Health Center, Astaneh, Guilan, Iran
  • Marjan Dadashzadeh

    Marjan Dadashzadeh

    Rasht Health Center, Rasht, Guilan, Iran
  • Hajar Khatami

    Hajar Khatami

    Anzali Health Center, Anzali, Guilan, Iran
  • Monireh Moradkhah Navi

    Monireh Moradkhah Navi

    Talesh Medical Center, Talesh, Guilan, Iran
  • Parisa Zamanparvar

    Parisa Zamanparvar

    Lahijan Medical Center, Lahijan, Guilan, Iran
  • Hassan Behboudi

    Hassan Behboudi

    Department of Ophthalmology, Guilan University of Medical Sciences, Rasht, Iran
  • Elahe Elahi

    Elahe Elahi

    School of Biology, University College of Science, University of Tehran, Tehran, Iran

Published Date

  • Oct 25, 2021
This journal is publishing all the articles under Creative Commons Attribution License CC BY 4.0.

Carrier Status for p.Gly61Glu and p.Arg368His CYP1B1 Mutations Causing Primary Congenital Glaucoma in Iran

Journal of Ophthalmic and Vision Research (JOVR) / October–December 2021, Volume 16, Issue 4 / Pages 574–581

Abstract

Purpose: To estimate carrier frequencies of CYP1B1 mutations p.Gly61Glu and p.Arg368His, respectively, in Talesh and the east of Guilan province in Iran with a maximum error of 2%. Previously, it was shown that these CYP1B1 mutations may be relatively prevalent in these regions.


Methods: Population-based screenings were performed. DNA was extracted from saliva samples of 1036 individuals from Talesh and 3029 individuals from the east of Guilan. P.Gly61Glu and p.Arg368His screenings were performed, respectively, by RFLP and ARMS-based PCR protocols. For confirmation, the DNA of individuals with mutations was sequenced using the Sanger protocol.


Results: Nine individuals from Talesh (0.86%; 95%CI: 0.45–1.64%) carried the p.Gly61Glu mutation, and 73 from the east of Guilan (2.41%; 95%CI: 1.91–3.04%) carried p.Arg368His. There was no significant difference in frequencies between urban and rural regions of the various cities, nor among four cities within the east of Guilan.


Conclusion: The frequencies of p.Gly61Glu carriers in Talesh and of p.Arg368His carriers in the east of Guilan were within the 95% confidence interval of a previous study based on screenings of fewer individuals. The reliability of the recent estimates is higher, as the confidence interval for p.Gly61Glu decreased from 6.5% to 1.19% and the interval for p.Arg368His decreased from 4% to 1.13%. Based on the new findings, the maximum expected frequency of p.Gly61Glu carriers in Talesh is 1.64%, and of p.Arg368His carriers in the east of Guilan is 3%. The need for performing premarital screenings in the respective cities can be evaluated.

Keywords:

CYP1B1, Guilan, Iran, p.Arg368His, p.Gly61Glu, Primary Congenital Glaucoma

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