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 mutation spectrum of CYP1B1 among 104 primary congenital glaucoma patients of the genetically heterogeneous Iranian population was investigated by sequencing. We also determined intragenic single nucleotide polymorphism (SNP) haplotypes associated with the mutations and compared these with haplotypes of other populations. Finally, the frequency distribution of the haplotypes was compared among primary congenital glaucoma patients with and without CYP1B1 mutations and normal controls. Genotype classification of six high-frequency SNPs was performed using the PHASE 2...
July 2007: Journal of Molecular Diagnostics: JMD