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Review
. 2008 Feb;38(2):155-63.
doi: 10.1007/s12033-007-9006-7. Epub 2007 Oct 13.

PCR-SSCP: a method for the molecular analysis of genetic diseases

V Konstantinos Kakavas  1 , Panagiotis Plageras, T Antonios Vlachos, Agelos Papaioannou, V Argiris Noulas
Affiliations
Review

PCR-SSCP: a method for the molecular analysis of genetic diseases

V Konstantinos Kakavas et al. Mol Biotechnol. 2008 Feb.

Erratum in

  • Mol Biotechnol. 2008 Nov;40(3):316. Konstantinos, Kakavas V [corrected to Kakavas, V Konstantinos]; Panagiotis, Plageras [corrected to Plageras, Panagiotis]; Antonios, Vlachos T [corrected to Vlachos, T Antonios]; Agelos, Papaioannou [corrected to Papaioannou, Agelos]; Argiris, Noulas V [cor

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.

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