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  • Title: [Screening of candidate genes in a family with autosomal dominant retinitis pigmentosa].
    Author: Teng Y, Tian H, Wang H, Hu X, Chen Y, Yang Z, Wang W.
    Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2003 Apr; 20(2):164-6. PubMed ID: 12673590.
    Abstract:
    OBJECTIVE: To determine the causative mutation in a 5 generation pedigree with autosomal dominant retinitis pigmentosa (ADRP). METHODS: 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. RESULTS: 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. CONCLUSION: 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.
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