SSCP (single strand conformation polymorphism) analysis for detection of point mutations. a technique and its limits exemplified by dominantly inherited forms of diabetes (MODY)

Ziemssen, F.; Schnepf, R.; Pfeiffer, A.

Medizinische Klinik 96(9): 515-520

2001


ISSN/ISBN: 0723-5003
PMID: 11603114
DOI: 10.1007/pl00002236
Accession: 047299301

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Abstract
Molecular biological techniques of mutation detection become more and more a focus of interest in clinical medicine because the responsible genes are now known for an increasing number of diseases and the detection is essential to enable reliable predictions and to design individual therapies. Therefore the SSCP (Single Strand Conformation Polymorphism) analysis is one of the most commonly applied methods in detection of point mutations. The use of SSCP for detection of the pathogenic mutations of MODY (Maturity Onset Diabetes in the Young) is described as an example. Handling, efficiency and costs are critically analyzed. In a blind test, this method was only partly suitable for reliable analysis. Particularly diseases without a distinct hotspot and with a widespread distribution pattern of mutations throughout the coding sequence require sequencing as the gold standard.