Disease gene screening of known loci in a Chinese family with autosomal dominant retinitis pigmentosa

Objective: To map the disease-causing gene in a Chinese family with autosomal dominant retinitis pigmentosa.

Methods: Twenty-seven micro-satellite markers were randomly selected from the region around the known loci of causative genes, and haplotypes were determined by ABI3100 genetic analyzer. Two-point linkage analysis was performed using MLINK.

Results: The Lod score of each marker vs adRP was below 1.

Conclusions: The phenotype of this family may not be caused by mutation of the known disease-causing genes.