The etiology of most genetic diseases has been found to be a mutation in a gene’s coding region. For example, various mutations have been identified on the HSD17B10 gene, resulting in 17β- hydroxysteroid dehydrogenase type 10 (HSD10) deficiency and mental retardation, choreoathetosis, abnormal behavior (MRXS10).
To elucidate the pathogenesis of many genetic diseases, it is necessary to synthesize mutants of their protein gene products. Site directed mutagenesis is not only essential for this goal but is also critical to advances in biological science, especially for protein engineering and improved understanding of protein structurefunction relationships.Site specific mutagenesis was first achieved in 1970s. Thereafter, the polymerase chain reaction (PCR) technique simplified the specific alteration of DNA sequences, and the unique restriction digestion raised the mutagenesis efficiency.