Sindhushree, R (2014) Molecular screening of myocilin gene in patients with positive family history of glaucoma. Masters thesis, Madras Medical College, Chennai.
|
Text
2203001sindhushree.pdf Download (13MB) | Preview |
Abstract
METHODOLOGY: All patients underwent a thorough ophthalmological examination after obtaining a detailed family history with custom designed questionnaire. On securing informed consent, the blood samples were collected from probands and their available family members and subjected to DNA analysis. DNA was isolated using Phenol-Chloroform-iso amyl alcohol method and amplified using polymerase chain reaction. Purified PCR product was then directly sequenced using forward primer. The sequences were aligned for homology with their respective reference sequences using NCBI BLASTN and analysed for probable sequence variations. RESULTS: A total of 35 subjects were included in this study. Majority of the probands were females in the age group of 50-70 years. DNA analysis was done which showed exonic variations in six of the probands of which three had variations in exon 1, two in exon 3 and one had in both exon 1 and exon 3. All these exonic variations were found to be heterozygous except two that were homozygous. The proband DKEG12A had four exonic variations one in exon 1 viz., R76K which was homozygous and other three were in exon 3 as T325M , L349L, R470R all were heterozygous. The change T325M is a novel variation. The proband DKEG11A had Q368X in heterozygous state which is a truncated mutation. Intronic variations were noted in proband DKEG3A, DKEG4A, DKEG5A, DKEG7A, DKEG9A, DKEG10A, and DKEG12A of which some of them were homozygous and some were of heterozygous. CONCLUSION: The truncated mutation Q368X has been found for the first time in south Indian population, though previous studies have documented this mutation in western as well as in north Indian population. Two novel synonymous variations L349L, R470R are being documented for the first time to be in association with glaucoma. The novel variation T325M has to be functionally characterised. Thus molecular screening may open an exciting frontier in the future to aid in early diagnosis and treatment of glaucoma.
| Item Type: | Thesis (Masters) |
|---|---|
| Uncontrolled Keywords: | Hereditary; POAG; Myocilin; Genetic testing |
| Subjects: | MEDICAL > Ophthalmology |
| Depositing User: | Devi S |
| Date Deposited: | 07 Sep 2017 05:17 |
| Last Modified: | 07 Sep 2017 05:17 |
| URI: | http://repository-tnmgrmu.ac.in/id/eprint/3039 |
Actions (login required)
 |
View Item |
