title: PCR-SSCP: a method for the molecular analysis of genetic diseases.
abstract: Single strand conformation polymorphism (SSCP) is a reproducible, rapid and quite simple method for the detection of deletions/insertions/rearrangements in polymerase chain reaction amplified DNA. All the details for the use of PCR-SSCP are presented in the direction of genetic diseases (beta-thalassaemia, cystic fibrosis), optimum gel conditions, sensitivity and the latest modifications of the method, which are applied in most laboratories. This non-radioactive PCR-SSCP method can be reliably used to identify mutations in patients (beta-globin, CFTR), provided suitable controls are available. Moreover, it is widely used for mutation identification in carriers (beta-thalassaemia, cystic fibrosis), making it particularly useful in population screening.
authors.affiliation: Laboratory of Clinical Chemistry, School of Medical Laboratories, Faculty of Health and Care, Highest Technological Institute of Larissa, Greece. flokakavas@sch.gr
authors.forename: V Konstantinos
authors.initials: VK
authors.lastname: Kakavas
authors.forename: Kakavas V
authors.initials: KV
authors.lastname: Konstantinos
authors.forename: Panagiotis
authors.initials: P
authors.lastname: Plageras
authors.forename: Plageras
authors.initials: P
authors.lastname: Panagiotis
authors.forename: T Antonios
authors.initials: TA
authors.lastname: Vlachos
authors.forename: Vlachos T
authors.initials: VT
authors.lastname: Antonios
authors.forename: Agelos
authors.initials: A
authors.lastname: Papaioannou
authors.forename: Papaioannou
authors.initials: P
authors.lastname: Agelos
authors.forename: V Argiris
authors.initials: VA
authors.lastname: Noulas
authors.forename: Noulas V
authors.initials: NV
authors.lastname: Argiris
mesh_terms: D001483:Base Sequence; D004252:DNA Mutational Analysis; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics; D016133:Polymerase Chain Reaction / Q000379:methods*; D018807:Polymorphism, Single-Stranded Conformational / Q000235:genetics*