Founder Effect for Thr377Met Myocilin Mutation in 8 POAG Families From Differing Ethnic Backgrounds

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  

 

Keywords: genetics • candidate gene analysis • gene screening