| 摘要 |
The invention provides a composition containing a probe, application of the composition, a CNV variation detection method, a method for simultaneously performing multiple variation detection, and an apparatus used for executing all or a part of steps of the methods. The provided composition contains the probe, the probe is immobilized on a solid-phase carrier or dissociated in a solution, and the probe is capable of covering at least one part of each of five genes in the following genes: HBA1, HBA2, HBB, GJB2, SLC26A4, SMN1, DMD, GALT, PAH, F8, F9, ATP7B, CYP21A2, GAA and PKHD1. The composition is applicable to determine all or a part of sequences of the 15 genes, variation analysis can be performed based on the obtained determined sequence, and variation analysis is beneficial for detecting or helping to detect 12 high-incidence genetic diseases in our country. |
