Detection of mutations in human DNA

Mucopolysaccharidosis type II: Identification of six novel mutations in Italian patients

“…Single-strand conformation polymorphism (SSCP) (Landegren, 1992) was performed on PCR products at 4°C on a 6-10% nondenaturing acrylamide gel containing 5% glycerol for 4-6 hr, at 20 mA. The DNA fragments were detected by the silver staining method (Budowle et al, 1991).…”

Rapid molecular diagnosis of mutations associated with generalized thyroid hormone resistance by PCR-coupled automated direct sequencing of genomic DNA: Detection of two novel mutations

“…For diseases defined by simple point mutations, current technology will allow for the routine examination of an individual's genome for the presence of previously defined molecular defects through techniques such as restriction enzyme pattern changes (RFLP) and single-strand conformation polymorphism techniques (SSCP) (Landegren, 1992). However, if the mutation is not at a previously characterized site, it is difficult to make definitive statements regarding the diagnosis.…”

Evaluation of 15 Polymerases and Phosphorothioate Primer Modification for Detection of UV-induced C:G to T:A Mutations by Allele-specific PCR¶

“…These methods are generally divided into two groups: detection (and possible quantification) of known mutations and scanning methods for unknown mutations. A TPosted on the website on description of these methods can be found in several reviews (1)(2)(3)(4)(5)(6)(7)(8) and in protocol books dedicated to mutation detection (9-1 7). The majority of methods to detect mutations require that the ratio of mutation-containing DNA to wild-type sequence be high ( > I mutation in 100 wild-type sequences) and are most often used for detecting allelic or other dominant mutations.…”