title: Molecular screening of genetic defects with RNA-SSCP analysis: the PKU and cystinuria model.
abstract: RNA single-strand conformation polymorphism (rSSCP) is a recently developed method for detecting genetic defects. This technique requires DNA amplification with a polymerase chain reaction making use of one T7 promoter-containing primer. Amplification products are subsequently transcribed in vitro and the labelled transcripts are analysed for single-strand conformation changes. rSSCP has been applied to mutation screening of the phenylalanine hydroxylase gene and rBAT cDNA, from PKU and cystinuric patients, respectively. Experimental evidence shows that 83% and 86% of screened PKU and cystinuric mutations, respectively, give rise to detectable rSSCP signals. Thus, results obtained show that RNA single-strand conformation polymorphism analysis is generally applicable and is a suitable technique for detecting genetic disease causing mutations, both in basic research and in clinical practice.
mesh_terms: D001483:Base Sequence; D003555:Cystinuria / Q000453:epidemiology / Q000235:genetics*; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D005091:Exons; D005820:Genetic Testing; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008969:Molecular Sequence Data; D009154:Mutation; D010651:Phenylalanine Hydroxylase / Q000235:genetics; D010661:Phenylketonurias / Q000453:epidemiology / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational; D012313:RNA / Q000737:chemistry / Q000235:genetics*
chemical_list: D018076:DNA, Complementary; D012313:RNA; D010651:Phenylalanine Hydroxylase