Open Access Repository

Investigation of founder effects for the Thr377Met Myocilin mutation in glaucoma families from differing ethnic backgrounds


Downloads per month over past year

Hewitt, AW, Sundaresan, P, Wiggs, JL, Mackey, DA, Wirtz, MK, Samples, JR, Allingham, RR, Jarvela, I, Kitsos, G, Krishnadas, SR, Richards, JE, Lichter, PR and Petersen, MB 2007 , 'Investigation of founder effects for the Thr377Met Myocilin mutation in glaucoma families from differing ethnic backgrounds' , Molecular Vision, vol. 13 , pp. 487-492 .

[img] PDF
4317.pdf | Request a copy
Full text restricted


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

Item Type: Article
Authors/Creators:Hewitt, AW and Sundaresan, P and Wiggs, JL and Mackey, DA and Wirtz, MK and Samples, JR and Allingham, RR and Jarvela, I and Kitsos, G and Krishnadas, SR and Richards, JE and Lichter, PR and Petersen, MB
Journal or Publication Title: Molecular Vision
Publisher: Molecular Vision
ISSN: 1090-0535
Item Statistics: View statistics for this item

Actions (login required)

Item Control Page Item Control Page