Studies on Glucoma Genes: Molecular Defects in Primary Open Angel Glucoma Patients and Single Nuclotide Polymorphism in Indian Population.
IR@IICB: CSIR-Indian Institute of Chemical Biology, Kolkata
View Archive Info| Field | Value | |
| Title |
Studies on Glucoma Genes: Molecular Defects in Primary Open Angel Glucoma Patients and Single Nuclotide Polymorphism in Indian Population.
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| Creator |
Bhattacharjee, Ashima
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| Subject |
Molecular & Human Genetics
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| Description |
Glaucoma, the second leading cause of blindness, is a heterogeneous group of optic
neuropathies having complex genetic bases. Primary Open Angle glaucoma (POAG)
is the most prevalent among glaucoma subtypes. Among the 14 reported loci
implicated for the disease, only three underlying candidate genes have been
characterized till date viz. Myocilin (MYOC), Optineurin (OPTN) and WDR36. Among
them MYOC has been reported to be responsible for 2-4% of the adult onset cases
of the disease whereas there has been relatively less evidence for any major
involvement of OPTN and WDR36 with the disease till date. While digenic cases
involving mutations in MYOC and CYP1B1 have been associated with the disease,
SNPs in genes like APOE and p53 have also been reported to contribute to the
apparent complexity of the disease. Hence analysis of the role of other genetic
variation like intragenic SNPs as potential predisposing factors for the disease would
be a natural strategy to decipher the complex genetic etiology of POAG.
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| Date |
2007
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| Type |
Thesis
NonPeerReviewed |
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| Format |
application/pdf
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| Identifier |
http://www.eprints.iicb.res.in/611/1/Thesis_Ashima_PDF.pdf
Bhattacharjee, Ashima (2007) Studies on Glucoma Genes: Molecular Defects in Primary Open Angel Glucoma Patients and Single Nuclotide Polymorphism in Indian Population. PhD thesis, Jadavpur University. |
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| Relation |
http://www.eprints.iicb.res.in/611/
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