| Literature DB >> 18219595 |
V Konstantinos Kakavas1, Kakavas V Konstantinos, Panagiotis Plageras, Plageras Panagiotis, T Antonios Vlachos, Vlachos T Antonios, Agelos Papaioannou, Papaioannou Agelos, V Argiris Noulas, Noulas V Argiris.
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.Entities:
Mesh：
Year: 2007 PMID： 18219595 DOI： 10.1007/s12033-007-9006-7
Source DB: PubMed Journal: Mol Biotechnol ISSN： 1073-6085 Impact factor: 2.695