SpringerProtocols: Abstract: Point Mutation Detection by Temperature-Programmed Capillary Electrophoresis

Point Mutation Detection by Temperature-Programmed Capillary Electrophoresis

By: Cecilia Gelfi⁵, Laura Cremoresi⁶, Maurizio Ferrari⁷, Pier Giorgio Righetti⁵

Abstract

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Small alterations in DNA sequence of genomic DNA lead to many human diseases, such as cancer, diabetes, heart disease, atherosclerosis, cystic fibrosis, Alzheimer disease, Duchenne muscular dystrophy, and various thalassemias. These alterations in DNA sequence include many types of mutations and polymorphisms, such as substitutions of one or several nucleotides, deletions or insertions of some larger sequences, differences in variable number of tandem repeats (VNTR), and the genomic instability of microsatellite repeat (1). The diagnosis of human diseases by DNA polymorphism analysis has very important applications in the fields of genetic and medical research, clinical chemistry and forensic science. Because a large portion of sequence variations in the human genome is caused by single base changes, any method used to detect mutations or polymorphisms must be capable of detecting single-base substitutions.

Affiliation(s): (5) CNR, Institute of Advanced Biomedical Technologies, Milano, Italy
(6) Istituto Scientifico H. S. Raffaele, DIBIT, Milano, Italy
(7) I. R. C. C. S., H. San Raffaele, Laboratorio Biologia Molecolare Clinica, Milano, Italy

Book Title: Capillary Electrophoresis of Nucleic Acids: Volume II: Practical Applications of Capillary Electrophoresis

Series: Methods in Molecular Biology | Volume: 163 | Pub. Date: Jan-19-2001 | Page Range: 73-88 | DOI: 10.1385/1-59259-116-7:73

Subject: Biochemistry

References

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