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CYP1B1 Mutation Profile of Iranian Primary Congenital Glaucoma Patients and Associated Haplotypes
Fereshteh Chitsazian, Betsabeh Khoramian Tusi, Elahe Elahi, Heidar Amini Saroei, Mohammad H. Sanati, Shahin Yazdani, Mohammad Pakravan, Navid Nilforooshan, Yadollah Eslami, Mohammad Ali Zare Mehrjerdi, Reza Zareei, Mahmood Jabbarvand, Ali Abdolahi, Ali R. Lasheyee, Arash Etemadi, Behnaz Bayat, Mehdi Sadeghi, Mohammad M. Banoei, Behnam Ghafarzadeh, Mohammad R. Rohani, Akram Rismanchian, Yvonne Thorstenson, Mansoor Sarfarazi The Journal of Molecular Diagnostics Volume 9, Issue 3, Pages (July 2007) DOI: /jmoldx Copyright © 2007 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions
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Figure 1 RFLP electrophoresis patterns of common CYP1B1 mutations of Iranian PCG patients. A: g.3987G>A; B: g.7940G>A; C: g.8006G>A; D: g.8242C>T. SM, size markers; NN, homozygous normal; MM, homozygous mutant; MN, heterozygous; −, undigested PCR product. PCR amplicon of exon 2 (primers 2aF and 2aR) was digested for detection of mutation G61E and PCR amplicon of exon 3 for detection of the other three common mutations. TaqI digestion of normal and G61E mutated exon 2 amplicons produces 70- and 75-bp fragments that migrate out of the gel. Likewise, BccI digestion of normal and R368H mutated exon 3 amplicons produces a 23-bp fragment that also migrates out of the gel. The Journal of Molecular Diagnostics 2007 9, DOI: ( /jmoldx ) Copyright © 2007 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions
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