Screening of candidate genes in a family with autosomal dominant retinitis pigmentosa / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To determine the causative mutation in a 5 generation pedigree with autosomal dominant retinitis pigmentosa (ADRP).</p><p><b>METHODS</b>Genomic DNA from four patients and 4 normal persons in the same pedigree suffering ADRP were extracted, and subsequently eight exons of three ADRP candidate genes were screened for mutations by a combined polymerase chain reaction-single strand conformation polymorphism and DNA sequencing techniques.</p><p><b>RESULTS</b>A new point mutation in rhodopsin gene at codon 52 of exon 1 (TTC to TAC) that resulted in a substitution of Tyr to Phe was detected in the four affected family members, but not in the four control individuals from the same pedigree.</p><p><b>CONCLUSION</b>A causative mutation of rhodopsin gene was identified in a large Chinese pedigree with ADRP. The present study confirmed the molecular genetic heterogeneity of ADRP.</p>