Hewitt, AW and Samples, JR and Allingham, RR and Jarvela, I and Kitsos, G and Krishnadas, SR and Richards, JE and Lichter, PR and Petersen, MB and Sundaresan, P and Wiggs, JL and Mackey, DA and Wirtz, MK, Investigation of founder effects for the Thr377Met Myocilin mutation in glaucoma families from differing ethnic backgrounds, Molecular Vision, 13, (50-51) pp. 487-492. ISSN 1090-0535 (2007) [Refereed Article]
Licensed under Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported (CC BY-NC-ND 3.0) http://creativecommons.org/licenses/by-nc-nd/3.0/
Official URL: http://www.molvis.org/molvis/v13/a51/
Purpose: The aim of this study was to determine if there is a common founder for the Thr377Met myocilin mutation in primary open angle glaucoma (POAG) families with various ethnic backgrounds.
Methods: Genomic DNA of 24 POAG-affected individuals from nine pedigrees with the Thr377Met mutation and 104 unaffected family members was genotyped with six microsatellite markers and four single nucleotide polymorphisms. The families were from Greece, India, Finland, the USA, and Australia. To assess the degree of linkage disequilibrium across MYOC in the general population we also investigated data generated from the HapMap consortium.
Results: Three distinct haplotypes associated with the Thr377Met myocilin mutation were identified. The families from the USA and Greece, as well as the three Australian families originating from Greece and the former Yugoslavian Republic of Macedonia had one common haplotype. Interestingly, however, HapMap data suggest that linkage disequilibrium across MYOC was not strong.
Conclusions: The Thr377Met myocilin mutation has arisen at least three separate times. Evidence for genetic founder effects in this prevalent age-related, yet heterogeneous, disease has important implications for future gene identification strategies.
|Item Type:||Refereed Article|
|Research Division:||Biomedical and Clinical Sciences|
|Research Group:||Ophthalmology and optometry|
|Objective Group:||Clinical health|
|Objective Field:||Clinical health not elsewhere classified|
|UTAS Author:||Hewitt, AW (Professor Alex Hewitt)|
|UTAS Author:||Mackey, DA (Professor David Mackey)|
|Web of Science® Times Cited:||12|
|Downloads:||186 View Download Statistics|
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