Single nucleotide polymorphisms

Optimization of a multiplex minisequencing protocol for population studies and medical genetics

C. M. B. Carvalho and Pena, S. D. J., Optimization of a multiplex minisequencing protocol for population studies and medical genetics, vol. 4, pp. 115-125, 2005.

Several technologically sophisticated high-throughput techniques have been recently developed for the study of human single nucleotide polymorphisms and the diagnosis of point mutations in human diseases. However, there is also a need for simple and inexpensive techniques suitable for clinical services and small research laboratories. Minisequencing meets the latter requirements. It is simple, non-radioactive and can be easily multiplexed by adding oligonucleotide tails of increasing size to the sequencing oligonucleotide primers.

Rapid identification of single nucleotide polymorphisms by fluorescence-based capillary electrophoresis

M. Bernat, Titos, E., and Clària, J., Rapid identification of single nucleotide polymorphisms by fluorescence-based capillary electrophoresis, vol. 1, pp. 72-78, 2002.

We describe the application of two different fluorescence-based techniques (ddNTP primer extension and single-strand conformation polymorphism (SSCP)) to the detection of single nucleotide polymorphisms (SNPs) by capillary electrophoresis. The ddNTP primer extension technique is based on the extension, in the presence of fluorescence-labeled dideoxy nucleotides (ddNTP, terminators), of an unlabeled oligonucleotide primer that binds to the complementary template immediately adjacent to the mutant nucleotide position.

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