PCR-SSCP: a method for the molecular analysis of genetic diseases.
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.
Kakavas
V Konstantinos
VK
Laboratory of Clinical Chemistry, School of Medical Laboratories, Faculty of Health and Care, Highest Technological Institute of Larissa, Greece. flokakavas@sch.gr
Konstantinos
Kakavas V
KV
Plageras
Panagiotis
P
Panagiotis
Plageras
P
Vlachos
T Antonios
TA
Antonios
Vlachos T
VT
Papaioannou
Agelos
A
Agelos
Papaioannou
P
Noulas
V Argiris
VA
Argiris
Noulas V
NV
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*