اخبار و اعلانات

 آمار

تعداد نشریات24
تعداد شماره‌ها851
تعداد مقالات7,575
تعداد مشاهده مقاله13,413,758
تعداد دریافت فایل اصل مقاله11,580,454
Kaur, Avneet, Vanita, Vanita, Singh, JaiRup. (1397). Screening of CYP1B1 Arg368His as predominant mutation in North Indian primary open angle glaucoma and juvenile onset glaucoma patients. , 7(4), 181-186. doi: 10.22099/mbrc.2018.30630.1344
Avneet Kaur; Vanita Vanita; JaiRup Singh. "Screening of CYP1B1 Arg368His as predominant mutation in North Indian primary open angle glaucoma and juvenile onset glaucoma patients". , 7, 4, 1397, 181-186. doi: 10.22099/mbrc.2018.30630.1344
Kaur, Avneet, Vanita, Vanita, Singh, JaiRup. (1397). 'Screening of CYP1B1 Arg368His as predominant mutation in North Indian primary open angle glaucoma and juvenile onset glaucoma patients', , 7(4), pp. 181-186. doi: 10.22099/mbrc.2018.30630.1344
Kaur, Avneet, Vanita, Vanita, Singh, JaiRup. Screening of CYP1B1 Arg368His as predominant mutation in North Indian primary open angle glaucoma and juvenile onset glaucoma patients. , 1397; 7(4): 181-186. doi: 10.22099/mbrc.2018.30630.1344

Screening of CYP1B1 Arg368His as predominant mutation in North Indian primary open angle glaucoma and juvenile onset glaucoma patients

Molecular Biology Research Communications
مقاله 4، دوره 7، شماره 4، 2018، صفحه 181-186    اصل مقاله (75.64 K)
نوع مقاله: Original article
شناسه دیجیتال (DOI): 10.22099/mbrc.2018.30630.1344
نویسندگان
Avneet Kaur* 1؛ Vanita Vanita2؛ JaiRup Singh2
1Department of Biotechnology, GGDSD College, Sector-32C, Chandigarh (UT) India-160030
2Department of Human Genetics, Guru Nanak Dev University, Amritsar 143005, India
چکیده
In India, mutations in Cytochrome P450 (CYP1B1) are a predominant cause of not only primary congenital glaucoma (PCG) but also involved in primary open angle glaucoma (POAG) and juvenile onset glaucoma (JOAG). After ethical clearance, 100 POAG patients, 30 primary angle closure glaucoma (PACG) patients and 130 ethnically matched controls were recruited in this study. Genomic DNA was isolated from the blood and screened for p.Arg368His mutation in CYP1B1 by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). On PCR-RFLP, 10/100 cases (10%) were found positive for Arg368His mutation. In North Indian POAG cases studied, p.Arg368His mutation was found only in heterozygous state. The frequency of p.Arg368His CYP1B1 mutation in heterozygote state (10.0%) observed in our study in North Indian POAG patients is the highest in comparison to frequency observed in other ethnic groups from Southern and Eastern India.
کلیدواژه‌ها
North Indian؛ POAG؛ p.Arg368His؛ CYP1B1
مراجع

1. Kwon YH, Fingert JH, Kuehn MH, Alward WLM. Primary Open-Angle Glaucoma. N Engl J Med 2009;360:1113-1124. 

2. Lutjen-Drecoll E, Shimizu T, Rohrbach M, Rohen JW. Quantitative analysis of plaque material in the inner- and outer wall of Schlemm's canal in normal and glaucomatous eyes. Exp Eye Res 1986;42:443-455.

3. Pascolini D, Mariotti SP. Global estimates of visual impairment: 2010. Br JOphthalmol  2012; 96:614-618.

4. Balasubramanian D. Molecular and cellular approaches to understand and treat some diseases of the eye. Curr Sci 2002;82:948-957.

5. Quigley HA and Broman AT. The number of people with glaucoma worldwide in 2010 and 2020. Br J Ophthalmol2006;90:262-267.

6. Leite MT, Sakata LM, Medeiros FA. Managing glaucoma in developing countries. Arq Bras Oftalmol 2011;74:83-84.

7. Weinreb RN, Aung T, Medeiros FA. The pathophysiology and treatment of glaucoma: a review. JAMA2014;311:1901-1911.

8. Wiggs JL, Damji KF, Haines JL, Pericak-Vance MA, Allingham RR. The distinction between juvenile and adult-onset primary open-angle glaucoma. Am J Hum Genet 1996;58:243-244.

9. Turalba AV, Chen TC. Clinical and genetic characteristics of primary juvenile-onset open-angle glaucoma (JOAG). Semin Ophthalmol 2008;23:19-22.

10. Jonas JB, Grundler A. Optic disc morphology in juvenile primary open-angle glaucoma. Graefes Arch Clin Exp Ophthalmol 1996; 234:750-754

11. Takamoto M and Araie M. Genetics of primary open angle glaucoma. Jpn J Ophthalmol 2014;58: 1-15.

12. Stone EM, Fingert JH, Alward WL, Nguyen TD, Polansky JR, Sunden SL, 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;275:668–670.

13. Rezaie T, Child A, Hitchings R,  Brice G, Miller L, Coca-Prados M, Héon E, KrupinT, Ritch R, Kreutzer D, Crick RP, Sarfarazi M. Adult-onset primary open-angle glaucoma caused by mutations in optineurin. Science 2002;295:1077-1079. 

14. Monemi S, Spaeth G, DaSilva A,  Popinchalk S, Ilitchev E, Liebmann J, Ritch R, Héon 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;14:725-733.

15. Stoilov I, Akarsu AN, Sarfarazi M. Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital  glaucoma (buphthalmos) in families linked to the GLC3A locus on chromosome 2p21. Hum Mol Genet 1997;6:641-647.

16. Kanagavalli J, Krishnadas SR, Pandaranayaka E, Krishnaswamy S, Sundarcag P. Evaluation and understanding of myocilin mutations in Indian primary open angle glaucoma patients. Mol Vis 2003;92606-92614.

17. Rose R, Karthikeyan M, Anandan B, Jayaraman G. Myocilin mutations among primary open angle glaucoma patients of Kanyakumari district, South India. Mol Vis 2007;13:497-503.

18. 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;14:508-517.

19. 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;70:448-460.

20. Melki R, Colomb E, Lefort N, Brezin AP, Garchon HJ. CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma. J Med Genet200441;647-651.

21. Acharya M, Mookherjee S, Bhattacharjee A, Bandyopadhyay AK, Daulat Thakur SK, Bhaduri G, Sen A, Ray K. Primary role of CYP1B1 in Indian juvenile-onset POAG patients. Mol Vis2006;12:399-404.

22. Pasutto F, Chavarria-Soley G, Mardin CY, Michels-Rautenstrauss K, Ingelman-Sundberg M, Fernández-Martínez L, Weber BH, Rautenstrauss B, Reis A. Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma. Invest Ophthalmol Vis Sci 2010;51:249-254.

23. Lopez-Garrido MP, Blanco-Marchite C, Sanchez-Sanchez F, Lopez-Sanchez E, Chaques-Alepuz V, Campos-Mollo E, Salinas-Sanchez A, Escribano. Functional analysis of CYP1B1 mutations and association of heterozygous hypomorphic alleles with primary open-angle glaucoma. Clin Genet 2010;77:70-78.

24. Milla E, Mane B, Duch S, Hernan I, Borràs E, Planas E, Dias Mde S, Carballo M, Gamundi MJ, Spanish Multicenter Glaucoma Group-Estudio Multicéntrico Español de Investigación Genética del Glaucoma, EMEIGG. Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population. Mol Vis 2013; 19:1707-1722.

25. Zhou XM, Yin Y, Fan N, Cheng HB, Li XH, Wang Y, Yu WH, Cai SP, Liu XY. Single nucleotide polymorphism of MYOC affected the severity of primary open angle glaucoma. Int J Ophthalmol 2013;6:264-268.

26. Gupta V, Somarajan BI, Walia GK, Kaur J, Kumar S, Gupta S, Chaurasia AK, Gupta D, Kaushik A, Mehta A, Gupta V, Sharma A. Role of CYP1B1, p.E229K and p.R368H mutations among 120 families with sporadic juvenile onset open-angle glaucoma. Graefes Arch Clin Exp Ophthalmol 2018;256:355-362.

27. Chakrabarti S, Devi KR, Komatireddy S, Kaur K, Parikh RS,Mandal AK, Chandrasekhar G, Thomas R. Glaucoma associated CYP1B1 mutations share similar haplotype backgrounds in POAG and PACG phenotypes. Invest Ophthalmol Vis Sci 2007;48:5439-5444.

28. Abu-Amero KK, Morales J, Aljasim LA, Edward DP. CYP1B1 mutations are a major contributor to juvenile-onset open angle glaucoma in Saudi Arabia. Ophthalmic Genet 2015; 36:184-187.

29. Ting NS, Li Yim JF, Ng JY. Different strategies and cost-effectiveness in the treatment of primary open angle glaucoma. Clinicoecon Outcomes Res 201;6:523-530.

30. Adeli K, Ogboma G. Rapid purification of human DNA from Whole blood for potential application in clinical chemistry laboratories. Clin Chem 1990;36:261-264.

31. Vanita. Genetical investigations in congenital cataract cases. Ph.D thesis. Guru Nank Dev University, Amritsar (Punjab) 1998.

32. Kakiuchi-Matsumoto T, Isashiki Y, Ohba N, Kimura K, Sonoda S, Unoki K. Cytochrome P450 1B1 gene mutations in Japanese patients with primary congenital glaucoma. Am J Ophthalmol 2001;131:345-350.

33. Lopez-Garrido MP, Sanchez-Sanchez F, Lopez-Martinez F, Aroca-Aguilar JD,  Blanco-Marchite C, Coca-Prados M, Escribano J.  Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma. Mol Vis2006; 12:748-755.

34. Kumar A, Basavaraj MG, Gupta SK, Qamar I, Ali AM, Bajaj V, Ramesh TK, Prakash DR, Shetty JS, Dorairaj SK. Role of CYP1B1, MYOC, OPTN, and OPTC genes in adult-onset primary open-angle glaucoma: predominance of CYP1B1 mutations in Indian patients. Mol Vis 2007;13:667-676.

آمار
تعداد مشاهده مقاله: 1,554
تعداد دریافت فایل اصل مقاله: 1,174


سامانه مدیریت نشریات علمی. قدرت گرفته از سیناوب