Identification of two novel OPA1 mutations in Chinese families with autosomal dominant optic atrophy.

ABSTRACT:

Purpose

To report the clinical features and identification of two novel mutations in two Chinese pedigrees with autosomal dominant optic atrophy (ADOA).

Methods

Two families (F1 and F2) including ten affected members and nine unaffected family individuals were examined clinically. After informed consent was obtained, peripheral blood samples of all the participants were obtained, and genomic DNA was extracted. Linkage analysis was performed with two microsatellite markers around the OPA1 gene (D3S2305 and D3S3562) in family F1. The coding region (exon 1-28), including intron-exon boundary of the OPA1 gene, were screened in the 2 families by polymerase chain reaction (PCR) and direct DNA sequencing. Whenever substitutions were identified in a patient, single strand conformati

SUBMITTER: Li Y 

PROVIDER: S-EPMC2610289 | biostudies-literature | 2008

REPOSITORIES: biostudies-literature