LINE-1L1HS Ion PGM DNA Method for preparing DNA library for LINE-1L1HS targeted-probe enrichment using Ion PGM sequencer

摘要

The present invention relates to an ion PGM sequencer-based DNA library production method for selective discovery of mobile genetic element LINE-1 (L1HS). The present invention develops an L1HS target sequencing method which can identify human specific L1HS factors based on the importance of mobile genetic elements, the development of next-generation sequencing decryption technology, the cost reduction, and the development of analytical systems such that the present invention will be helpful for simply and quickly studying the genetic variation of an individual by L1HS and genetic consequences thereby. In addition, based on the present technology, it is possible to develop additional technology targeting only active mobile genes which show mobility in the human genome including the L1HS factor and may cause genetic variation. Since a targeting sequence data analysis methods as well as mobilization gene targeting sequencing analysis are simplified and universalized, the present invention can be expected to be used for the development of clinical diagnostics. According to the present invention, the ion PGM sequencer-based DNA library production method for selective discovery of mobile genetic element LINE-1 (L1HS) comprises: a step of segmenting genomic DNA; a step of smoothing both ends of the segmented DNA; a step of hybridizing the smoothed DNA with a probe targeting mobile genetic element LINE-1; a step of extending the hybridized DNA; and a step of performing PCR amplification.