May 2006
Volume 47, Issue 13
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ARVO Annual Meeting Abstract  |   May 2006
Founder Effect for Thr377Met Myocilin Mutation in 8 POAG Families From Differing Ethnic Backgrounds
M.K. Wirtz; D.A. Mackey; R.R. Allingham; J. Wiggs; J.R. Samples; I. Jarvela; P. Sundaresan; M. Petersen; S. Krishnadas
Author Affiliations & Notes
  • M.K. Wirtz
    Ophthalmology, Casey Eye Institute–OHSU, Portland, OR
  • D.A. Mackey
    University of Melbourne, Center for Eye Research Australia, Melbourne, Australia
  • R.R. Allingham
    Ophthalmology, Duke University Eye Center, Durham, NC
  • J. Wiggs
    Ophthalmology, Harvard Med Sch
  • J.R. Samples
    Ophthalmology, Casey Eye Institute–OHSU, Portland, OR
  • I. Jarvela
    Ophthalmology, University of Helsinki, Helsinki, Finland
  • P. Sundaresan
    Genetics, Aravind Medical Research Foundation, Madurai, India
  • M. Petersen
    Genetics, Institute of Child Health, Athens, Greece
  • S. Krishnadas
    Genetics, Aravind Medical Research Foundation, Madurai, India
  • Footnotes
    Commercial Relationships  M.K. Wirtz, None; D.A. Mackey, None; R.R. Allingham, None; J. Wiggs, None; J.R. Samples, None; I. Jarvela, None; P. Sundaresan, None; M. Petersen, None; S. Krishnadas, None.
  • Footnotes
    Support  NIH Grants EY11650, 5P30EY010572, EY015543, EY010886, AHAF and an unrestricted grant from RPB to the Casey Eye Institute
Investigative Ophthalmology & Visual Science May 2006, Vol.47, 173. doi:
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      M.K. Wirtz, D.A. Mackey, R.R. Allingham, J. Wiggs, J.R. Samples, I. Jarvela, P. Sundaresan, M. Petersen, S. Krishnadas; Founder Effect for Thr377Met Myocilin Mutation in 8 POAG Families From Differing Ethnic Backgrounds . Invest. Ophthalmol. Vis. Sci. 2006;47(13):173.

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Abstract
 
Purpose:
 

To determine if there is a common founder for the Thr377Met myocilin mutation in 8 primary open angle glaucoma families with various ethnic backgrounds.

 
Methods:
 

DNA from 24 affected individuals with the Thr377Met mutation and 104 family members was genotyped with 6 microsatellite markers. The families were from Greece, India, Finland, the US and Australia. Of the four families from Australia, two were from Greece, one from Macedonia and one from Great Britain.

 
Results:
 

At least two distinct haplotypes were identified. The families from the US, Greece and the three Australian families originating from Greece and Macedonia all shared one haplotype. The Indian, Finnish and British families share portions of their haplotype suggesting that they may have a common founder. Genotyping with additional markers is in progress to determine if these three haplotypes are related.

 
Conclusions:
 

The Thr377Met myocilin mutation has arisen at least two separate times. Haplotype Analysis of POAG families with the Thr377Met myocilin mutation  

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Keywords: genetics • candidate gene analysis • gene screening 
© 2006, The Association for Research in Vision and Ophthalmology, Inc., all rights reserved. Permission to republish any abstract or part of an abstract in any form must be obtained in writing from the ARVO Office prior to publication.
Copyright © 2023 Association for Research in Vision and Ophthalmology.
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