Evaluation of the X-linked high-grade myopia locus (MYP1) with cone dysfunction and color vision deficiencies.

ABSTRACT:

Purpose

X-linked high myopia with mild cone dysfunction and color vision defects has been mapped to chromosome Xq28 (MYP1 locus). CXorf2/TEX28 is a nested, intercalated gene within the red-green opsin cone pigment gene tandem array on Xq28. The authors investigated whether TEX28 gene alterations were associated with the Xq28-linked myopia phenotype. Genomic DNA from five pedigrees (with high myopia and either protanopia or deuteranopia) that mapped to Xq28 were screened for TEX28 copy number variations (CNVs) and sequence variants.

Methods

To examine for CNVs, ultra-high resolution array-comparative genomic hybridization (array-CGH) assays were performed comparing the subject genomic DNA with control samples (two pairs from two pedigrees). Opsin or TEX28 gene-targeted quanti

SUBMITTER: Metlapally R 

PROVIDER: S-EPMC3934550 | biostudies-literature | 2009 Apr

REPOSITORIES: biostudies-literature