Heshmati Ali, Taghizadeh Peyman, Ahmadieh Hamid, Yaseri Mehdi, Suri Fatemeh, Alizadeh Mahsa, Dadashzadeh Marjan, Khatami Hajar, Navi Monireh Moradkhah, Zamanparvar Parisa, Behboudi Hassan, Elahi Elahe
School of Biology, University College of Science, University of Tehran, Tehran, Iran.
Ophthalmic Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
J Ophthalmic Vis Res. 2021 Oct 25;16(4):574-581. doi: 10.18502/jovr.v16i4.9747. eCollection 2021 Oct-Dec.
To estimate carrier frequencies of 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 mutations may be relatively prevalent in these regions.
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.
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.
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.
分别估计伊朗塔勒什和吉兰省东部p.Gly61Glu和p.Arg368His突变的携带频率，最大误差为2%。此前研究表明，这些突变在这些地区可能相对普遍。
进行基于人群的筛查。从塔勒什的1036名个体和吉兰省东部的3029名个体的唾液样本中提取DNA。分别采用基于限制性片段长度多态性（RFLP）和基于等位基因特异性扩增（ARMS）的聚合酶链反应（PCR）方案对p.Gly61Glu和p.Arg368His进行筛查。为进行确认，对有突变个体的DNA采用桑格测序法进行测序。
塔勒什有9名个体（0.86%；95%置信区间：0.45 - 1.64%）携带p.Gly61Glu突变，吉兰省东部有73名个体（2.41%；95%置信区间：1.91 - 3.04%）携带p.Arg368His。不同城市的城乡地区之间以及吉兰省东部的四个城市之间的频率无显著差异。
塔勒什p.Gly61Glu携带者的频率以及吉兰省东部p.Arg368His携带者的频率处于先前基于较少个体筛查的研究的95%置信区间内。近期估计的可靠性更高，因为p.Gly61Glu的置信区间从6.5%降至1.19%，p.Arg368His的置信区间从4%降至1.13%。基于新发现，塔勒什p.Gly61Glu携带者的最大预期频率为1.64%，吉兰省东部p.Arg368His携带者的最大预期频率为3%。可评估在相应城市进行婚前筛查的必要性。
