Investigation of Founder Effects for the Thr377Met Myocilin Mutation in Glaucoma Families from Differing Ethnic Backgrounds

DSpace/Manakin Repository

Investigation of Founder Effects for the Thr377Met Myocilin Mutation in Glaucoma Families from Differing Ethnic Backgrounds

Citable link to this page

. . . . . .

Title: Investigation of Founder Effects for the Thr377Met Myocilin Mutation in Glaucoma Families from Differing Ethnic Backgrounds
Author: Hewitt, Alex W.; Samples, John R.; Allingham, R. Rand; Järvelä, Irma; Kitsos, George; Krishnadas, Subbaiah R.; Richards, Julia E.; Lichter, Paul R.; Petersen, Michael B.; Sundaresan, Periasamy; Mackey, David A.; Wirtz, Mary K.; Wiggs, Janey Lee

Note: Order does not necessarily reflect citation order of authors.

Citation: Hewitt, Alex W., John R. Samples, R. Rand Allingham, Irma Järvelä, George Kitsos, Subbaiah R. Krishnadas, Julia E. Richards, et al. 2007. Investigation of founder effects for the Thr377Met Myocilin mutation in glaucoma families from differing ethnic backgrounds. Molecular Vision 13: 487-492.
Full Text & Related Files:
Abstract: 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.
Published Version: http://www.molvis.org/molvis/v13/a51/
Other Sources: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2649311/pdf/
Terms of Use: This article is made available under the terms and conditions applicable to Other Posted Material, as set forth at http://nrs.harvard.edu/urn-3:HUL.InstRepos:dash.current.terms-of-use#LAA
Citable link to this page: http://nrs.harvard.edu/urn-3:HUL.InstRepos:8123168

Show full Dublin Core record

This item appears in the following Collection(s)

 
 

Search DASH


Advanced Search
 
 

Submitters