CYP1B1 mutation profile of Iranian primary congenital glaucoma patients and associated haplotypes
| Autor: | Mehdi Sadeghi, Yadollah Eslami, Shahin Yazdani, Reza Zareei, Akram Rismanchian, Elahe Elahi, Navid Nilforooshan, Mohammad Ali Zare Mehrjerdi, Behnaz Bayat, Mohammad Hossein Sanati, Mohammad Pakravan, Ali R. Lasheyee, Mahmood Jabbarvand, Yvonne R. Thorstenson, Mansoor Sarfarazi, Fereshteh Chitsazian, Heidar Amini Saroei, Behnam Ghafarzadeh, Mohammad Rohani, Ali Abdolahi, Betsabeh Khoramian Tusi, Arash Etemadi, Mohammad Mehdi Banoei |
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| Rok vydání: | 2007 |
| Předmět: |
Genetic Linkage
DNA Mutational Analysis Molecular Sequence Data Single-nucleotide polymorphism Biology Iran medicine.disease_cause Polymorphism Single Nucleotide Pathology and Forensic Medicine Cytochrome P-450 Enzyme System Gene Frequency Genotype medicine SNP Humans Amino Acid Sequence Allele Allele frequency Genetics Mutation Sequence Homology Amino Acid Genetic heterogeneity Haplotype Infant Newborn Infant Glaucoma body regions Haplotypes Case-Control Studies Child Preschool Cytochrome P-450 CYP1B1 Molecular Medicine Aryl Hydrocarbon Hydroxylases Regular Articles |
| Zdroj: | The Journal of molecular diagnostics : JMD. 9(3) |
| ISSN: | 1525-1578 |
| Popis: | 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 2.0 software. CYP1B1 mutations in the Iranian patients were very heterogeneous. Nineteen nonconservative mutations associated with disease, and 10 variations not associated with disease were identified. Ten mutations and three variations not associated with disease were novel. The 13 novel variations make a notable contribution to the approximately 70 known variations in the gene. CYP1B1 mutations were identified in 70% of the patients. The four most common mutations were G61E, R368H, R390H, and R469W, which together constituted 76.2% of the CYP1B1 mutated alleles found. Six unique core SNP haplotypes were identified, four of which were common to the patients with and without CYP1B1 mutations and controls studied. Three SNP blocks determined the haplotypes. Comparison of haplotypes with those of other populations suggests a common origin for many of the mutations. |
| Databáze: | OpenAIRE |
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