A brief history of genetic variation analysis

• As the human genome sequence is determined, there is an emerging need for the analysis of human sequence variations as genetic markers in diagnosis, linkage and association studies, cancer research, and pharmacogenomics. There are several different techniques and approaches for detecting these genetic variations, and here we review some of these techniques and their application fields. However, all the techniques have advantages and disadvantages, and factors such as laboratory instrumentation, personnel experience, required accuracy, required throughput, and cost often have to be taken into account before selecting a method.

Nyckelord

polymerase-chain-reaction

single-nucleotide polymorphisms

gradient gel-electrophoresis

tumor-suppressor gene

sickle-cell anemia

beta-globin gene

mutation detection

point mutations

human genome

oligonucleotide probes

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