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

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

SUBMITTER: Hewitt AW 

PROVIDER: S-EPMC2649311 | biostudies-literature | 2007 Mar

REPOSITORIES: biostudies-literature