PCR-SSCP: a Method for the Molecular Analysis of Genetic Diseases

Overview

Journal Mol Biotechnol

Publisher Springer

Specialties Biotechnology
Molecular Biology

Date 2008 Jan 26

PMID 18219595

Citations 18

Authors

V Konstantinos Kakavas

Kakavas V Konstantinos

Panagiotis Plageras

Plageras Panagiotis

T Antonios Vlachos

Vlachos T Antonios

Agelos Papaioannou

Papaioannou Agelos

V Argiris Noulas

Noulas V Argiris

Affiliations

Soon will be listed here.

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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