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- Title
Synonymous Myocilin mutations break their silence in a Zambian population attending selected referral eye health facilities.
- Authors
Muma, Kangwa I. M.; Bailey, Robin; Nyalazi, Jessie I. M.; Zulu, George; Mumba-Malisawa, Tyness S.; Chinama-Musonda, Lillian M. L.; Sibande-Muma, Kachikonyo; Kaonga, Patrick; Simulundu, Edgar
- Abstract
Objective: Myocilin mutations are associated with primary open angle glaucoma in multiple populations. the role of myocilin gene mutations in Primary Open Angle Glaucoma in a Zambian population. Primary open-angle glaucoma in Zambia has an earlier age of onset and appears to be more clinically severe. Therefore, we investigated Methods: The unrelated patients and unaffected controls recruited were from the University Teaching Hospitals Eye Hospital, Kitwe Teaching Eye Hospital and Lusaka Adventist Eye Hospital. A complete eye examination, including visual field assessment, was performed in all cases and controls. Genomic DNA was extracted from whole peripheral blood, then subjected to polymerase chain reaction to amplify exons, flanking introns and promoter regions of the myocilingene. The amplified products were screened for base mutations by auto sequence based on the Sanger method. The analyses of findings included odds ratios, chi-square, bivariate, multivariate and conditional logistic regression with 95% confidence interval and at a 5% level of.
- Subjects
ZAMBIA; OPEN-angle glaucoma; HEALTH facilities; TEACHING hospitals; PROMOTERS (Genetics); POLYMERASE chain reaction; GENETIC mutation
- Publication
Medical Journal of Zambia, 2022, Vol 49, Issue 3, p236
- ISSN
0047-651X
- Publication type
Article
- DOI
10.55320/mjz.49.3.992