Screening of common CYP1B1 mutations in Iranian POAG patients using a microarray-based PrASE protocol

Molecular Vision

Volumn 14, Issue , 2008, Pages 2349-2356

  Suri, Fatemeh ^a   Kalhor, Reza ^a,h   Zargar, Seyed Jalal ^a   Nilforooshan, Navid ^b   Yazdani, Shahin ^c   Nezari, Hossein ^a   Paylakhi, Seyed Hassan ^d   Narooie Nejhad, Mehrnaz ^e   Bayat, Behnaz ^e   Sedaghati, Tina ^f   Ahmadian, Afshin ^g   Elahi, Elahe ^a  

^a UNIVERSITY OF TEHRAN   (Iran)

^b IRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^c SHAHID BEHESHTI UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^d TARBIAT MODARES UNIVERSITY   (Iran)

^e NATIONAL INSTITUTE OF GENETIC ENGINEERING AND BIOTECHNOLOGY   (Iran)

^f Matne Cellule Research Laboratory   (Iran)

^g ROYAL INSTITUTE OF TECHNOLOGY   (Sweden)

^h UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME P450 1B1; MYOCILIN; PROTEINASE;

ADOLESCENT; ADULT; ALLELE; ARTICLE; CLINICAL EXAMINATION; CLINICAL PROTOCOL; COHORT ANALYSIS; CONGENITAL GLAUCOMA; CONTROLLED STUDY; FEMALE; GENE AMPLIFICATION; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC IDENTIFICATION; GENETIC SCREENING; GENOTYPE; GONIOSCOPY; HAPLOTYPE; HEALTH PROGRAM; HUMAN; HYBRIDIZATION; IRAN; MAJOR CLINICAL STUDY; MALE; MICROARRAY ANALYSIS; NUCLEOTIDE SEQUENCE; ONSET AGE; OPEN ANGLE GLAUCOMA; PERIMETRY; PRESCHOOL CHILD; PRIORITY JOURNAL; SLIT LAMP;

ADOLESCENT; ADULT; AGED; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHILD; CYTOCHROME P-450 ENZYME SYSTEM; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC SCREENING; GENOTYPE; GLAUCOMA, OPEN-ANGLE; HUMANS; IRAN; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PEDIGREE; PEPTIDE HYDROLASES; PHENOTYPE;

EID: 58049113515     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (27)

1. Fan BJ, Wang DY, Lam DS, Pang CP. Gene mapping for primary open angle glaucoma. Clin Biochem 2006; 39:249-58.
2. Ray K, Mukhopadhyay A, Acharya M. Recent advances in molecular genetics of glaucoma. Mol Cell Biochem 2003; 253:223-31.
3. Sarfarazi M. Recent advances in molecular genetics of glaucomas. Hum Mol Genet 1997; 6:1667-77.
4. Quigley HA. Number of people with glaucoma worldwide. Br J Ophthalmol 1996; 80:389-93.
5. Shields MB, Ritch R, Krupin T. Classification of the glaucomas. In: Ritch R, Shields MB, Krupin T, editors. The Glaucomas. St. Louis (MO):Mosby-Year Book. 1996. p 717-25.
6. Stone EM, Fingert JH, Alward WLM, Nguyen TD, Polansky JR, Sunden SLF, Nishimura D, Clark AF, Nystuen A, Nichols BE, Mackey DA, Ritch R, Kalenak JW, Craven ER, Sheffield VC. Identification of a gene that causes primary open angle glaucoma. Science 1997; 275:668-70.
7. Monemi S, Spaeth G, DaSilva A, DaSilva G, Popinchalk S, Ilitchev E, Liebmann J, Ritch R, Heon E, Crick RP, Child A, Sarfarazi M. Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1. Hum Mol Genet 2005; 14:725-33.
8. Rezaie T, Child A, Hitchings R, Brice G, Miller L, Coca-Prados M, Heon E, Krupin T, Ritch R, Kreutzer D, Crick RP, Sarfarazi M. Adult-onset primary open angle glaucoma caused by mutations in optineurin. Science 2002; 295:1077-9.
9. Aldred MA, Baumber L, Hill A, Schwalbe EC, Goh K, Karwatowski W, Trembath RC. Low prevalence of MYOC mutations in UK primary open-angle glaucoma patients limits the utility of genetic testing. Hum Genet 2004; 115:428-31.
10. Fingert JH, Héon E, Liebmann JM, Yamamoto T, Craig JE, Rait J, Kawase K, Hoh S-T, Buys YM, Dickinson J, Hockey RR, Williams-Lynn D, Trope G, Kitazawa Y, Ritch R, Mackey DA, Alward WLM, Sheffield VC, Stone EM. Analysis of myocilin mutations in 1703 glaucoma patients from five different populations. Hum Mol Genet 1999; 8:899-905.
11. Sarfarazi M, Stoilov I, Schenkman J. Geneticsa and biochemistry of primary congenital glaucoma. Ophthalmol Clin North Am 2003; 16:543-54.
12. Acharya M, Mookherjee S, Bhattacharjee A, Bandyopadhyay A, Daulat Thakur SK, Bhaduri G, Sen A, Ray K. Primary role of CYP1B1 in Indian juvenile-onset POAG patients. Mol Vis 2006; 12:399-404.
13. Bayat B, Yazdani S, Alavi A, Chiani M, Chitsazian F, Tusi BK, Suri F, Narooie-Nejhad M, Sanati MH, Elahi E. Contributions of MYOC and CYP1B1 mutations to JOAG. Mol Vis 2008; 14:508-17.
14. Chakrabarti S, Kaur K, Komatireddy S, Acharya M, Devi K, Mukhopadhyay A, Mandal AK, Hasnain SE, Chandrasekhar G, Thomas R, Ray K. Gln48His is the prevalent myocilin mutation in primary open angle and primary congenital glaucoma phenotypes in India. Mol Vis 2005; 11:111-3.
15. López-Garrido M-P, Sánchez-Sánchez F, López-Martínez F, Aroca-Aguilar J-D, Blanco-Marchite C, Coca-Prados M. Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma. Mol Vis 2006; 12:748-55.
16. Melki R, Colomb E, Lefort N, Brézin A, Garchon H. CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma. J Med Genet 2004; 41:647-51.
17. Chitsazian F, Tusi BK, Elahi E, Saroei HA, Sanati M, Yazdani S, Pakravan M, Nilforooshan N, Eslami Y, Mehrjerdi MA, Zareei R, Jabbarvand M, Abdolahi A, Lasheyee AR, Etemadi A, Bayat B, Sadeghi M, Banoei MM, Ghafarzadeh B, Rohani MR, Rismanchian A, Thorstenson Y, Sarfaraz M. CYP1B1 mutation profile of Iranian primary congenital glaucoma patients and associated haplotypes. J Mol Diagn 2007; 9:382-93.
18. Hultin E, Käller M, Ahmadian A, Lundeberg J. Competitive enzymatic reaction to control allele-specific extensions. Nucleic Acids Res 2005; 33:e48.
19. Käller M, Hultin E, Holmberg K, Persson M-L, Odeberg J, Lundeberg J, Ahmadian A. Comparison of PrASE and Pyrosequencing for SNP Genotyping. BMC Genomics 2006; 7:291.
20. Kaur K, Reddy A, Mukhopadhyay A, Mandal A, Hasnain S, Ray K, Thomas R, Balasubramanian D, Chakrabarti S. Myocilin gene implicated in primary congenital glaucoma. Chin Genet 2005; 67:335-40.
21. Vincent AL, Billingsley G, Buys Y, Levin AV, Priston M, Trope G, Williams-Lyn D, Heon E. Digenic inheritance of early-onset glaucoma: Cyp1b1, a potential modifier gene. Am J Hum Genet 2002; 70:448-60.
22. Stephens M, Donnelly P. A comparision of Bayesian methods for haplotype reconstruction from population genotype data. Am J Hum Genet 2003; 73:1162-9.
23. Stephens M, Smith N, Donnelly P. A new statistical method for haplotype reconstruction from population genotype data. Am J Hum Genet 2001; 68:978-89.
24. Colomb E, Kaplan J, Garchon H-J. Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France. Hum Mutat 2003; 22:496.
25. Käller M, Tuominen R, Ahmadian A, Magnusson V, Egyhazi S, Hansson J, Lundeberg J. Detection of MC1R Polymorphisms with Protease-Mediated Allele-Specific Extension as an Alternative to Direct Sequencing. Clin Chem 2005; 51:2388-91.
26. Pettersson E, Lindskog M, Lundeberg J, Ahmadian A. Trinucleotide threading for parallel amplification of minute amounts of genomic DNA. Nucleic Acids Res 2006; 34:e49.
27. Bejjani BA, Stockton DW, Lewis RA, Tomey KF, Dueker DK, Jabak M, Astle WF, Lupski JR. Multiple CYP1B1 mutations and incomplete penetrance in inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus. Hum Mol Genet 2000; 9:367-74.