Journals / Glokom Katarakt / 2006 / Cilt: 1 - Sayı: 4

Molecular genetics of glaucoma

Glokomun moleküler genetiği

Pages
231–237
DOI
—
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

In this paper a current approach will be introduced on the subject of the molecular genetics of glaucoma under the light of update literature

📌 3 Key Takeaways

🎯
Objective & Hypothesis:lot of studies are being done on the molecular genetics of glaucoma and new information is being gathered nowadays.
📊
Key Findings & Data:The elucidation of the hereditary etiopathogenesis will increase our expectations about the treatment of the primary cause of the disease and gene treatment will perhaps be possible.
💡
Conclusion & Impact:In this paper a current approach will be introduced on the subject of the molecular genetics of glaucoma under the light of update literature
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Mutasyon · Moleküler biyoloji · Glokom

Abstract

lot of studies are being done on the molecular genetics of glaucoma and new information is being gathered nowadays. The studies especially focus on the detection of new mutations, structural and functional analysis of the defined mutations, the interactions between genes and the correlations of genotypes and phenotypes. As a result genetically differences or similarities between the human populations are discovered. As well known glaucoma is a heterogeneous disease in which the interaction of genetically and environmental factors takes place. The elucidation of the hereditary etiopathogenesis will increase our expectations about the treatment of the primary cause of the disease and gene treatment will perhaps be possible. In this paper a current approach will be introduced on the subject of the molecular genetics of glaucoma under the light of update literature

Özet

Glokomun moleküler genetiği ile ilgili her gün yeni bilgilere ulaşılırken, bu konudaki çalışmalar da büyük bir hızla devam etmektedir. Araştırmalar yeni mutasyonların tesbiti, tanımlanan mutasyonların yapısal ve fonksiyonel analizleri, genler arası etkileşimler, genotip-fenotip korelasyonu gibi boyutlara taşınmakta, toplumlar arası genetik farklılık ya da benzerlikler açığa çıkarılmaktadır. Glokomun, genetik ve çevresel faktörlerin beraberce etkileştiği heterojen bir hastalık olması yanında, kalıtımsal etiyopatogenezin aydınlatılması ileride primer nedene yönelik tedavi umutlarımızı artıracak, gen tedavisini mümkün kılacaktır. Bu makalede günümüze kadar gelişen bilgiler ışığında glokomun moleküler genetiğine güncel bir yaklaşım sağlamaya çalışacağız

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Cite This Article

SARICAOĞLU, M. S. (2006). Molecular genetics of glaucoma. Glokom Katarakt, Cilt: 1 - Sayı: 4, 231–237. https://ajindex.com/articles/226676

References (12)

  1. Benedict TWG.: Abhaundlungen zum dem Gebiete der Augenheilkunde. Breslau: L. Freunde, 1842. Jansson I, Stoilov I, Sarfarazi M, et al.: Effect of two mutations of human CYP1B1, G61E and R469W, on stability and endogenous steroid substrate metabolism. Pharmacogenetics. 2001;11:793- 801. Panicker SG, Mandal AK, Reddy AB, et al.: Correlations of genotype with phenotype in Indian patients with primary congenital glaucoma. Invest Ophthalmol Vis Sci. 2004;45:1149-1156.
  2. Reddy AB, Panicker SG, Mandal AK, et al.: Identification of R368H as a predominant CYP1B1 allele causing primary congenital glaucoma in Indian patients. Invest Ophthalmol Vis Sci. 2003;44:4200-4203.
  3. Sarıcaoğlu MS, Karakurt A, Kalaycı D, ve ark.: Konjenital glokom olgularında cerrahi sonuçlarımız. MN Oftalmoloji. 2004;11:19- 23. Suyugül Z.: Glokomun genetiği. T Oft Gaz. 1995;25:312-318.
  4. Sarfarazi M, Akarsu AN, Hossain A, et al.: Assigment of a locus(GLC3A) for primary congenital glaucoma(Buphthalmos) to 2p21 and evidence for genetic heterogeneity. Genomics. 1995;30:171-177.
  5. Akarsu A, Turaçlı ME, Aktan SG, et al.: A second locus(GLC3B) for primary congenital glaucoma(Buphthalmos) maps to the 1p36 region. Hum Mol Genet. 1996;5:1199-1203.
  6. Sarfarazi M, Stoilov I: Molecular genetics of primary congenital glaucoma. Eye. 2000;14:422-428.
  7. Bejjani BA, Lewis RA, Tomey KF, et al.: Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia.Am J Hum Genet. 1998;62:325-333.
  8. Plasilova M, Stoilov I, Sarfarazi M, et al.: Identificationof single ancestral CYP1B1 mutation in Slovak gypsies (Roms) affected with primary congenital glaucoma. J Med Genet. 1999;36:290-294.
  9. Alfadhlı S, Behbehani A, Elshafey A, et al.: molecular ana clinical evalıation of primary kongenital glaucoma in Kuwait. Am J Ophthalmol. 2006;141:512-516.
  10. Stoilov IR, Costa VP, Vasconcellos JP, et al.: Molecular genetics of primary congenital glaucoma in Brazil. Invest Ophthalmol Vis Sci. 2002;43:1820-1827.
  11. Colomb E, Kaplan J, Garchon HJ.: Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France. Hum Mutat. 2003;22:496. Reddy ABM, Kaur K, Mandak AK, et al.: Mutation spectrum of the CYP1B1 gene in Indian primary congenital glaucoma patients. Mol Vis. 2004;10:696-702.
  12. Kakiuchi-Matsumoto T, Isashiki Y, Ohba N, et al.: Cytochrome p450 1B1 gen mutations in Japanese patients with primary kongenital glaucoma. Am J Ophthalmol. 2001;131:345-350. Ogus A,