Familial cavitary optic disk anomalies: identification of a novel genetic locus.

ABSTRACT:

Purpose

To identify the chromosomal location of the gene involved in the pathogenesis of cavitary optic disk anomalies in a large pedigree with autosomal dominant inheritance of disease.

Design

Linkage analysis of a pedigree affected with cavitary optic disk anomalies.

Methods

Optic disk photographs were examined for the presence of cavitary optic disk anomalies. Sixteen affected family members and one obligate carrier were identified and studied with linkage analysis using both microarrays of single nucleotide polymorphisms (SNPs) and short tandem repeat polymorphism (STRP) markers.

Results

Multipoint linkage analysis of SNP genotypes yielded a maximum nonparametric logarithm of the odds (LOD) score of 21.7 with markers located on chromosome 12q. Linkage was c

SUBMITTER: Fingert JH 

PROVIDER: S-EPMC3684050 | biostudies-literature | 2007 May

REPOSITORIES: biostudies-literature