advertisement
Abstract #19818 Published in IGR 9-4
CYP1B1 mutation profile of Iranian primary congenital glaucoma patients and associated haplotypes
Chitsazian F; Tusi BK; Elahi E; Saroei HA; Sanati MH; Yazdani S; Pakravan M; Nilforooshan N; Eslami Y; Zare Mehrjerdi MAJournal of Molecular Diagnostics 2007; 9: 382-393
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 ten 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 ~70 known vacations 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.
Dr. E. Elahi, National Institute for Genetic Engineering and Biotechnology, P.O. Box 14155-6343, Tehran, Iran. Elahe.elahi@acnet.ir
Classification:
9.1.1 Congenital glaucoma, Buphthalmos (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
