The utility of next-generation sequencing in the evaluation of the posterior polymorphous corneal dystrophy 1 locus.

ABSTRACT:

Purpose

To identify the genetic basis of posterior polymorphous corneal dystrophy 1 (PPCD1) using next-generation sequencing (NGS) of the common PPCD1 support interval, in which Sanger sequencing failed to identify a pathogenic mutation.

Methods

Enrichment of the portion of chromosome 20 containing the common PPCD1 interval was performed on DNA extracted from an affected and an unaffected member of a family previously linked to the PPCD1 locus. NGS using the Roche 454 Titanium platform was performed, followed by computational analysis using NextGENe Software.

Results

NGS of the selectively enriched chromosomal 20 region between markers D20S48 and D20S190 produced over 400,000 DNA sequence reads with an average of 350 bases for each of the two DNA samples. Alignment of

SUBMITTER: Lai IN 

PROVIDER: S-EPMC3012649 | biostudies-literature | 2010 Dec

REPOSITORIES: biostudies-literature