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2003, Cilt 1, Sayı 1, Sayfa(lar) 047-053
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Mutation Scanning Methods
H. Asuman Özkara
Hacettepe Üniversitesi Tıp Fakültesi, Biyokimya Anabilim Dalı, Ankara
Keywords: Mutation detection, unknown mutations, mutation scanning

Scanning methods for mutation detection are important especially for research and diagnosis of inherited metabolic diseases and cancer. Many techniques were described for detection of unknown mutations. In the present review, current methods such as Ribonuclease cleavage, Denaturing Gradient Gel Electrophoresis, Single Stranded Conformational Polymorphism, Heterodupleks Analysis, Chemical and Enzymatic Cleavage, Protein Truncation Test and DNA Chips, for the detection of unknown point mutations, small deletions and insertions are overviewed. Principles, type of the mutation that can be detected, size of the DNA fragment that can be analyzed, advantages and disadvantages are specified for each method.

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